A40T (p.Ala40Thr) variant of GJB2 (Gap junction beta-2 protein)
A40T (p.Ala40Thr) in GJB2 (Gap junction beta-2 protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- rs764693395
- ClinGen CA6904316
- ClinVar RCV002690467
- ExAC rs764693395
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.71
- MetaLR 0.95
- MetaSVM 1.09
- CADD 21.90
- PolyPhen-2 0.18
- SIFT 0.01
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available