S65F (p.Ser65Phe) variant of ATP1A1 (P05023)
S65F (p.Ser65Phe) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S65F (p.Ser65Phe) variant details
- p.Ser65Phe
- gnomAD 1-116387298-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.29
- CADD 23.20
- PolyPhen-2 0.12
- SIFT 0.03
- Population evidence available
- Structural context available
- Literature evidence available