K19T (p.Lys19Thr) variant of KCNQ5 (Q9NR82)
K19T (p.Lys19Thr) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
K19T (p.Lys19Thr) variant details
- p.Lys19Thr
- gnomAD 6-72622245-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.433
- REVEL 0.40
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available