Q51H (p.Gln51His) variant of KCNA1 (Q09470)
Q51H (p.Gln51His) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
Q51H (p.Gln51His) variant details
- p.Gln51His
- gnomAD 12-4911531-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- REVEL 0.46
- MetaLR 0.32
- MetaSVM -0.57
- CADD 20.10
- PolyPhen-2 0.05
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available