Is ERICH6B p.Pro305Ser (c.913C>T) pathogenic?

ERICH6B p.Pro305Ser (c.913C>T) is classified Likely benign in ERICH6B (ClinVar, Single submitter, 1 submitter; last evaluated 2024-08-20). AlphaMissense: likely benign (0.0707); Absent from gnomAD v4.1.

How common is ERICH6B p.Pro305Ser (c.913C>T) in the general population?

ERICH6B p.Pro305Ser (c.913C>T) is absent from gnomAD v4.1 (gnomAD).

What do computational predictors say about ERICH6B p.Pro305Ser (c.913C>T)?

AlphaMissense predicts likely benign (score 0.0707) — an in-silico prediction, not a clinical call.

ERICH6B p.Pro305Ser

c.913C>T · VCV3510166

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

AlphaMissense

likely benign

0.0707 · ACMG-weighted

gnomAD v4.1

Absent

absent from gnomAD v4.1

Missense predictors

0/3 damaging

AlphaMissense, REVEL, SaProt

Computational evidence

Protein change
AlphaMissense	0.0707	likely benign
REVEL	0.022	moderately benign-leaning
SaProt	LLR -5.54	tolerated
⇒ AlphaMissense, REVEL and SaProt all call this tolerated.
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.2	GERP -1.6
Regional constraint	o/e 0.95	unconstrained · MANE · 56 kb · p 0.14 · regional, not allelic
Overall
CADD	2.468	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: ERICH6B
Protein: p.Pro305Ser
Coding: c.913C>T
MANE Select: NM_182542
Type: single nucleotide variant
Location: chr13:45580609 (GRCh38)
Gene constraint: LOEUF 1.023 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 51.67

Full ERICH6B gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Similar variants

ERICH6B p.Ala193Asp Uncertain significance ★ ⚠ same type
ERICH6B p.Ala285Thr Uncertain significance ★ ⚠ same type
ERICH6B p.Ala531Ser Uncertain significance ★ ⚠ same type
ERICH6B p.Ala580Val Uncertain significance ★ ⚠ same type
ERICH6B p.Ala665Thr Uncertain significance ★ ⚠ same type
ERICH6B p.Arg226Cys Uncertain significance ★ ⚠ same type
ERICH6B p.Arg226His Uncertain significance ★ ⚠ same type
ERICH6B p.Arg415Cys Uncertain significance ★ ⚠ same type

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/erich6b-p-pro305ser (accessed [today's date]).

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