K19N (p.Lys19Asn) variant of KCNQ5 (Q9NR82)
K19N (p.Lys19Asn) 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.
K19N (p.Lys19Asn) variant details
- p.Lys19Asn
- gnomAD 6-72622246-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.35
- CADD 22.80
- PolyPhen-2 0.02
- SIFT 0.16
- Population evidence available
- Structural context available
- Literature evidence available