V37G (p.Val37Gly) variant of ATP1A2 (P50993)
V37G (p.Val37Gly) in ATP1A2 (P50993) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V37G (p.Val37Gly) variant details
- p.Val37Gly
- gnomAD 1-160121002-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.776
- CADD 32.00
- Population evidence available
- Structural context available
- Literature evidence available