A27T (p.Ala27Thr) variant of KCNQ5 (Q9NR82)
A27T (p.Ala27Thr) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
A27T (p.Ala27Thr) variant details
- p.Ala27Thr
- gnomAD 6-72622268-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.42
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available