A50G (p.Ala50Gly) variant of GJA5 (Gap junction alpha-5 protein)
A50G (p.Ala50Gly) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and published literature.
A50G (p.Ala50Gly) variant details
- p.Ala50Gly
- gnomAD 1-147759090-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.657
- MetaLR 0.89
- MetaSVM 1.00
- CADD 23.40
- PolyPhen-2 0.41
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available