A40E (p.Ala40Glu) variant of GJB2 (Gap junction beta-2 protein)
A40E (p.Ala40Glu) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Rare genetic deafness; Nonsyndromic genetic hearing loss; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A40E (p.Ala40Glu) variant details
- p.Ala40Glu
- rs111033296
- ClinGen CA261635
- ClinVar RCV000037813
- ClinVar RCV001090238
- Pathogenic/Likely pathogenic
- Rare genetic deafness; Nonsyndromic genetic hearing loss; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.96
- AlphaMissense 0.53
- MetaLR 0.95
- MetaSVM 1.11
- CADD 24.70
- PolyPhen-2 0.73
- ClinVar: Pathogenic/Likely pathogenic (Rare genetic deafness; Nonsyndromic genetic hearing loss; not pr)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available