K53Q (p.Lys53Gln) variant of KCNA1 (Q09470)
K53Q (p.Lys53Gln) in KCNA1 (Q09470) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K53Q (p.Lys53Gln) variant details
- p.Lys53Gln
- rs1240945980
- gnomAD rs1240945980
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.39
- CADD 23.40
- PolyPhen-2 0.04
- SIFT 0.06
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available