A26V (p.Ala26Val) variant of KCNQ5 (Q9NR82)
A26V (p.Ala26Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A26V (p.Ala26Val) variant details
- p.Ala26Val
- cosmic curated COSV59678
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.40
- CADD 19.90
- PolyPhen-2 0.03
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 2.1e-06)
- Structural context available