A8E (p.Ala8Glu) variant of KCNQ3 (O43525)
A8E (p.Ala8Glu) in KCNQ3 (O43525) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A8E (p.Ala8Glu) variant details
- p.Ala8Glu
- Ensembl rs1420068758
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.43
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.8e-05)
- Structural context available