ERBIN p.Phe107=
c.321T>C · rs376511451 · VCV1617399
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00447%, eas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 3.5 | GERP 4.1, phastCons 1 |
| Overall | ||
| CADD | 10.12 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00447%
East Asian · 2/44,700 alleles
Filtering AF
0.000742%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.000314%
Overall
0.000936%
15/1,602,674 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00447% | 22,350 |
| South Asian | 0.00223% | 44,886 |
| Admixed American | 0.0017% | 58,968 |
| European (non-Finnish) | 0.000853% | 117,292 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ERBIN
- Protein
- p.Phe107=
- Coding
- c.321T>C
- MANE Select
- NM_001253697
- dbSNP
- rs376511451
- Type
- single nucleotide variant
- Location
- chr5:66012062 (GRCh38)
- Gene constraint
- LOEUF 0.526 · pLI 0.72 (gnomAD)
- Structure
- AlphaFold pLDDT 56.01 · 11 PDB
Similar variants
- ERBIN p.Phe107Leu Uncertain significance ★ ⚠ same residue
- ERBIN p.Ala942Val Uncertain significance ★★ ⚠ same type
- ERBIN p.Arg1096Gln Uncertain significance ★★ ⚠ same type
- ERBIN p.Arg1166Gln Uncertain significance ★★ ⚠ same type
- ERBIN p.Asn1035Ser Uncertain significance ★★ ⚠ same type
- ERBIN p.Asn650Ser Uncertain significance ★★ ⚠ same type
- ERBIN p.Asp530Tyr Uncertain significance ★★ ⚠ same type
- ERBIN p.Cys658Ser 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/erbin-p-phe107 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown