S43P (p.Ser43Pro) variant of GJA5 (Gap junction alpha-5 protein)
S43P (p.Ser43Pro) in GJA5 (Gap junction alpha-5 protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and published literature.
S43P (p.Ser43Pro) variant details
- p.Ser43Pro
- gnomAD 1-147759112-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- MetaLR 0.91
- MetaSVM 1.03
- CADD 22.50
- PolyPhen-2 0.32
- SIFT 0.04
- Population evidence available
- Literature evidence available