G6S (p.Gly6Ser) variant of ATP1A2 (P50993)
G6S (p.Gly6Ser) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
G6S (p.Gly6Ser) variant details
- p.Gly6Ser
- gnomAD 1-160120909-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.39
- CADD 21.70
- PolyPhen-2 0.06
- SIFT 0.14
- Population evidence available
- Structural context available
- Literature evidence available