S40S (p.Ser40Ser) variant of ATP1A1 (P05023)
S40S (p.Ser40Ser) in ATP1A1 (P05023) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S40S (p.Ser40Ser) variant details
- p.Ser40Ser
- rs761030948
- gnomAD 1-116384121-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.147
- CADD 9.32
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available