S60G (p.Ser60Gly) variant of ATP1A1 (P05023)
S60G (p.Ser60Gly) in ATP1A1 (P05023) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
S60G (p.Ser60Gly) variant details
- p.Ser60Gly
- gnomAD 1-116384837-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.20
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available