A23T (p.Ala23Thr) variant of KCNQ5 (Q9NR82)
A23T (p.Ala23Thr) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
A23T (p.Ala23Thr) variant details
- p.Ala23Thr
- gnomAD 6-72622256-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.40
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.47
- Population evidence available
- Structural context available
- Literature evidence available