C36Y (p.Cys36Tyr) variant of KCNA1 (Q09470)
C36Y (p.Cys36Tyr) 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 0.70 / 1. The record also includes population frequency data and structural context.
C36Y (p.Cys36Tyr) variant details
- p.Cys36Tyr
- rs749152092
- NCI-TCGA Cosmic COSV1012
- NCI-TCGA Cosmic COSV6683
- ExAC rs749152092
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.69
- CADD 24.10
- PolyPhen-2 0.02
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available