L30M (p.Leu30Met) variant of ATP1A2 (P50993)
L30M (p.Leu30Met) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L30M (p.Leu30Met) variant details
- p.Leu30Met
- gnomAD 1-160120981-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.26
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.27
- Population evidence available
- Structural context available
- Literature evidence available