E12D (p.Glu12Asp) variant of GJA5 (Gap junction alpha-5 protein)
E12D (p.Glu12Asp) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data.
E12D (p.Glu12Asp) variant details
- p.Glu12Asp
- ExAC rs782806068
- TOPMed rs782806068
- gnomAD rs782806068
- Missense
- Variant Prioritization Score for Impact Estimate 0.526
- MetaLR 0.92
- MetaSVM 0.93
- CADD 22.40
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the East Asian population (allele frequency 0.0001)