S65C (p.Ser65Cys) variant of ATP1A1 (P05023)
S65C (p.Ser65Cys) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
S65C (p.Ser65Cys) variant details
- p.Ser65Cys
- gnomAD 1-116387298-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.28
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available