G60A (p.Gly60Ala) variant of KCNQ3 (O43525)
G60A (p.Gly60Ala) 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 0.58 / 1. The record also includes population frequency data and structural context.
G60A (p.Gly60Ala) variant details
- p.Gly60Ala
- NCI-TCGA Cosmic COSV6646
- cosmic curated COSV66468
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.578
- REVEL 0.49
- CADD 22.70
- PolyPhen-2 0.28
- SIFT 0.22
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available