D29Y (p.Asp29Tyr) variant of KCNA1 (Q09470)
D29Y (p.Asp29Tyr) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
D29Y (p.Asp29Tyr) variant details
- p.Asp29Tyr
- gnomAD 12-4911463-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.32
- MetaLR 0.68
- MetaSVM 0.22
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available