F30S (p.Phe30Ser) variant of GJA5 (Gap junction alpha-5 protein)
F30S (p.Phe30Ser) 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, published literature, and structural context.
F30S (p.Phe30Ser) variant details
- p.Phe30Ser
- gnomAD 1-147759150-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- MetaLR 0.99
- MetaSVM 1.01
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available