E40V (p.Glu40Val) variant of KCNQ3 (O43525)
E40V (p.Glu40Val) 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.
E40V (p.Glu40Val) variant details
- p.Glu40Val
- Ensembl rs2130875227
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.45
- CADD 24.40
- PolyPhen-2 0.08
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available