R26L (p.Arg26Leu) variant of KCNA1 (Q09470)
R26L (p.Arg26Leu) in KCNA1 (Q09470) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R26L (p.Arg26Leu) variant details
- p.Arg26Leu
- gnomAD 12-4911455-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.30
- MetaLR 0.66
- MetaSVM -0.21
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available