W45S (p.Trp45Ser) variant of GJA5 (Gap junction alpha-5 protein)
W45S (p.Trp45Ser) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data.
W45S (p.Trp45Ser) variant details
- p.Trp45Ser
- gnomAD rs1553227085
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- MetaLR 0.99
- MetaSVM 1.03
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)