H4L (p.His4Leu) variant of KCNQ5 (Q9NR82)
H4L (p.His4Leu) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
H4L (p.His4Leu) variant details
- p.His4Leu
- gnomAD 6-72622200-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.42
- REVEL 0.44
- CADD 23.50
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available