A50S (p.Ala50Ser) variant of GJA5 (Gap junction alpha-5 protein)
A50S (p.Ala50Ser) in GJA5 (Gap junction alpha-5 protein) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data.
A50S (p.Ala50Ser) variant details
- p.Ala50Ser
- ExAC rs782167622
- gnomAD rs782167622
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- MetaLR 0.45
- MetaSVM -0.47
- CADD 15.00
- PolyPhen-2 0.02
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)