D56Y (p.Asp56Tyr) variant of ATP1A2 (P50993)
D56Y (p.Asp56Tyr) in ATP1A2 (P50993) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
D56Y (p.Asp56Tyr) variant details
- p.Asp56Tyr
- gnomAD 1-160121240-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.86
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available