S5T (p.Ser5Thr) variant of GJA5 (Gap junction alpha-5 protein)
S5T (p.Ser5Thr) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and published literature.
S5T (p.Ser5Thr) variant details
- p.Ser5Thr
- gnomAD 1-147759225-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- MetaLR 0.96
- MetaSVM 1.11
- CADD 24.00
- PolyPhen-2 0.83
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Literature evidence available