S10P (p.Ser10Pro) variant of ATP1A2 (P50993)
S10P (p.Ser10Pro) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
S10P (p.Ser10Pro) variant details
- p.Ser10Pro
- gnomAD 1-160120921-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.33
- CADD 20.30
- PolyPhen-2 0.21
- SIFT 0.26
- Population evidence available
- Structural context available
- Literature evidence available