A25T (p.Ala25Thr) variant of KCNQ5 (Q9NR82)
A25T (p.Ala25Thr) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
A25T (p.Ala25Thr) variant details
- p.Ala25Thr
- gnomAD 6-72622262-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.43
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.11
- Population evidence available
- Structural context available
- Literature evidence available