A6V (p.Ala6Val) variant of KCNQ5 (Q9NR82)
A6V (p.Ala6Val) in KCNQ5 (Q9NR82) 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.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- TOPMed rs2098915507
- gnomAD rs2098915507
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.45
- CADD 23.40
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available