K19R (p.Lys19Arg) variant of KCNQ5 (Q9NR82)
K19R (p.Lys19Arg) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
K19R (p.Lys19Arg) variant details
- p.Lys19Arg
- gnomAD 6-72622245-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.35
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available