Is MFRP p.Val38Phe (c.112G>T) pathogenic?

MFRP p.Val38Phe (c.112G>T) is classified Uncertain significance in MFRP (ClinVar, Single submitter, 1 submitter; last evaluated 2024-11-11). AlphaMissense: likely benign (0.1452); Absent from gnomAD v4.1; Associated with Inborn genetic diseases.

What condition is associated with MFRP p.Val38Phe (c.112G>T)?

MFRP p.Val38Phe (c.112G>T) is associated with Inborn genetic diseases (ClinVar).

How common is MFRP p.Val38Phe (c.112G>T) in the general population?

MFRP p.Val38Phe (c.112G>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about MFRP p.Val38Phe (c.112G>T)?

AlphaMissense predicts likely benign (score 0.1452) — an in-silico prediction, not a clinical call.

MFRP p.Val38Phe

c.112G>T · VCV3395506

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.1452 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Conditions

Inborn genetic diseases

Computational evidence

Protein change
AlphaMissense	0.1452	likely benign
REVEL	0.014	strongly benign-leaning
SaProt	LLR -7.38	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 2.2	GERP 0.43, phastCons 0.97
Regional constraint	o/e 1.14	unconstrained · MANE · 4,962 bp · p 0.00017 · regional, not allelic
Overall
CADD	21.1	PHRED · no single calibrated threshold — expert panels disagree

ClinVar classifies this uncertain; the computational predictors unanimously lean tolerated — a triage signal, not a reclassification

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: MFRP
Protein: p.Val38Phe
Coding: c.112G>T
MANE Select: NM_001278431 · reported on NM_031433
Type: single nucleotide variant
Location: chr11:119346317 (GRCh38)

Full MFRP 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

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/mfrp-p-val38phe (accessed [today's date]).

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