Is EMX2 p.Phe71Val (c.211T>G) pathogenic?

EMX2 p.Phe71Val (c.211T>G) is classified Uncertain significance in EMX2 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-07-31). AlphaMissense: likely pathogenic (0.6366); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with EMX2 p.Phe71Val (c.211T>G)?

EMX2 p.Phe71Val (c.211T>G) is associated with Inborn genetic diseases (ClinVar).

How common is EMX2 p.Phe71Val (c.211T>G) in the general population?

EMX2 p.Phe71Val (c.211T>G) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about EMX2 p.Phe71Val (c.211T>G)?

AlphaMissense predicts likely pathogenic (score 0.6366) — an in-silico prediction, not a clinical call.

EMX2 p.Phe71Val

c.211T>G · VCV3508400

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely pathogenic

0.6366 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

1/2 damaging

AlphaMissense, SaProt · REVEL no call

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.6366	likely pathogenic
REVEL	0.586	indeterminate
SaProt	LLR -5.86	tolerated
⇒ AlphaMissense calls this damaging; SaProt does not; REVEL makes no call.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 7.7	GERP 2.8, phastCons 1
Regional constraint	o/e 1.07	unconstrained · MANE · 2,389 bp · p 0.33 · regional, not allelic
Overall
CADD	33.0	PHRED · no single calibrated threshold — expert panels disagree

AlphaMissense carries the ACMG weight for missense; REVEL and SaProt are independent agreement signals.

Population frequency

gnomAD v4.1 · exomes + genomes

Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.

Variant & gene context

Gene: EMX2
Protein: p.Phe71Val
Coding: c.211T>G
MANE Select: NM_004098
Type: single nucleotide variant
Location: chr10:117543478 (GRCh38)
Gene constraint: LOEUF 0.499 · pLI 0.98 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 67.26

Full EMX2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Inborn genetic diseases — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

EMX2 p.Ala172Asp Uncertain significance ★ ⚠ same condition
EMX2 p.Ala172Thr Uncertain significance ★ ⚠ same condition
EMX2 p.Ala34Val Uncertain significance ★ ⚠ same condition
EMX2 p.Ala5Gly Uncertain significance ★ ⚠ same condition
EMX2 p.Ala5Pro Uncertain significance ★ ⚠ same condition
EMX2 p.Ala95Val Uncertain significance ★ ⚠ same condition
EMX2 p.Arg114Gly Uncertain significance ★ ⚠ same condition
EMX2 p.Asn80Asp Uncertain significance ★ ⚠ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/emx2-p-phe71val (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown