G73A (p.Gly73Ala) variant of KCNQ3 (O43525)
G73A (p.Gly73Ala) 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 0.50 / 1. The record also includes population frequency data and structural context.
G73A (p.Gly73Ala) variant details
- p.Gly73Ala
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- REVEL 0.43
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.12
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available