A25V (p.Ala25Val) variant of KCNQ5 (Q9NR82)
A25V (p.Ala25Val) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD 6-72622263-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.405
- REVEL 0.46
- CADD 22.30
- PolyPhen-2 0.00
- SIFT 0.08
- Most common in the Finnish in Finland (FIN) population (allele frequency 4.2e-05)
- Structural context available
- Literature evidence available