G44E (p.Gly44Glu) variant of KCNQ3 (O43525)
G44E (p.Gly44Glu) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
G44E (p.Gly44Glu) variant details
- p.Gly44Glu
- cosmic curated COSV10748
- gnomAD rs1316877906
- Missense
- Variant Prioritization Score for Impact Estimate 0.558
- REVEL 0.54
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available