A26E (p.Ala26Glu) variant of KCNQ5 (Q9NR82)
A26E (p.Ala26Glu) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
A26E (p.Ala26Glu) variant details
- p.Ala26Glu
- Ensembl rs2154471212
- Missense
- Variant Prioritization Score for Impact Estimate 0.429
- REVEL 0.45
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the East Asian population (allele frequency 3.7e-05)
- Structural context available