S47N (p.Ser47Asn) variant of ATP1A1 (P05023)
S47N (p.Ser47Asn) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
S47N (p.Ser47Asn) variant details
- p.Ser47Asn
- gnomAD 1-116384799-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.34
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.05
- Most common in the 1KG:LWK population (allele frequency 0.0058)
- Structural context available
- Literature evidence available