V3A (p.Val3Ala) variant of KCNA1 (Q09470)
V3A (p.Val3Ala) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
V3A (p.Val3Ala) variant details
- p.Val3Ala
- gnomAD 12-4911386-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- REVEL 0.64
- MetaLR 0.84
- MetaSVM 0.82
- CADD 24.50
- PolyPhen-2 0.21
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available