R38H (p.Arg38His) variant of KCNA1 (Q09470)
R38H (p.Arg38His) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- gnomAD rs1454599912
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.71
- CADD 29.90
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available