D31Y (p.Asp31Tyr) variant of KCNA1 (Q09470)
D31Y (p.Asp31Tyr) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D31Y (p.Asp31Tyr) variant details
- p.Asp31Tyr
- gnomAD 12-4911469-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.37
- MetaLR 0.74
- MetaSVM 0.37
- CADD 23.30
- PolyPhen-2 0.21
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available