K53R (p.Lys53Arg) variant of KCNA1 (Q09470)
K53R (p.Lys53Arg) 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 and structural context.
K53R (p.Lys53Arg) variant details
- p.Lys53Arg
- gnomAD rs1253981772
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.30
- CADD 21.70
- PolyPhen-2 0.01
- SIFT 0.97
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available