L61V (p.Leu61Val) variant of ATP1A2 (P50993)
L61V (p.Leu61Val) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
L61V (p.Leu61Val) variant details
- p.Leu61Val
- gnomAD 1-160123216-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.74
- CADD 24.20
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available