R26G (p.Arg26Gly) variant of KCNA1 (Q09470)
R26G (p.Arg26Gly) in KCNA1 (Q09470) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
R26G (p.Arg26Gly) variant details
- p.Arg26Gly
- NCI-TCGA TCGA novel
- ESP rs373645838
- ExAC rs373645838
- TOPMed rs373645838
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.34
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.39
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available