A59D (p.Ala59Asp) variant of KCNQ3 (O43525)
A59D (p.Ala59Asp) in KCNQ3 (O43525) 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 0.49 / 1. The record also includes population frequency data and structural context.
A59D (p.Ala59Asp) variant details
- p.Ala59Asp
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10119
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.35
- CADD 24.50
- PolyPhen-2 0.03
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available