E76V (p.Glu76Val) variant of KCNQ3 (O43525)
E76V (p.Glu76Val) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
E76V (p.Glu76Val) variant details
- p.Glu76Val
- cosmic curated COSV66479
- TOPMed rs1438607992
- gnomAD rs1438607992
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.48
- CADD 24.60
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available