R38G (p.Arg38Gly) variant of KCNA1 (Q09470)
R38G (p.Arg38Gly) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R38G (p.Arg38Gly) variant details
- p.Arg38Gly
- gnomAD 12-4911490-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.67
- MetaLR 0.55
- MetaSVM 0.13
- CADD 26.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available