D55G (p.Asp55Gly) variant of GJA5 (Gap junction alpha-5 protein)
D55G (p.Asp55Gly) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data.
D55G (p.Asp55Gly) variant details
- p.Asp55Gly
- TOPMed rs1243331504
- gnomAD rs1243331504
- Missense
- Variant Prioritization Score for Impact Estimate 0.73
- MetaLR 0.97
- MetaSVM 1.09
- CADD 27.10
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)