G21V (p.Gly21Val) variant of ATP1A2 (P50993)
G21V (p.Gly21Val) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- gnomAD 1-160120955-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.33
- CADD 21.90
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available