T19N (p.Thr19Asn) variant of GJA5 (Gap junction alpha-5 protein)
T19N (p.Thr19Asn) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
T19N (p.Thr19Asn) variant details
- p.Thr19Asn
- gnomAD rs1553227106
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- MetaLR 0.99
- MetaSVM 1.01
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)