H4R (p.His4Arg) variant of KCNQ5 (Q9NR82)
H4R (p.His4Arg) in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
H4R (p.His4Arg) variant details
- p.His4Arg
- gnomAD 6-72622200-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.40
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.06
- Population evidence available
- Structural context available
- Literature evidence available