D29H (p.Asp29His) variant of KCNA1 (Q09470)
D29H (p.Asp29His) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
D29H (p.Asp29His) variant details
- p.Asp29His
- gnomAD 12-4911463-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.41
- REVEL 0.26
- MetaLR 0.67
- MetaSVM 0.16
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available