S40A (p.Ser40Ala) variant of ATP1A1 (P05023)
S40A (p.Ser40Ala) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S40A (p.Ser40Ala) variant details
- p.Ser40Ala
- cosmic curated COSV55192
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.19
- MetaLR 0.28
- MetaSVM -0.65
- CADD 15.30
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available