D70H (p.Asp70His) variant of KCNA2 (P16389)
D70H (p.Asp70His) in KCNA2 (P16389) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
D70H (p.Asp70His) variant details
- p.Asp70His
- gnomAD 1-110604575-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.824
- REVEL 0.85
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available