A79S (p.Ala79Ser) variant of ATP1A1 (P05023)
A79S (p.Ala79Ser) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A79S (p.Ala79Ser) variant details
- p.Ala79Ser
- gnomAD 1-116387339-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.28
- CADD 22.00
- PolyPhen-2 0.04
- SIFT 0.11
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00066)
- Structural context available
- Literature evidence available