H8R (p.His8Arg) variant of KCNB1 (Q14721)
H8R (p.His8Arg) in KCNB1 (Q14721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
H8R (p.His8Arg) variant details
- p.His8Arg
- TOPMed rs1051157537
- gnomAD rs1051157537
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.19
- CADD 21.10
- PolyPhen-2 0.09
- SIFT 0.54
- Population evidence available
- Structural context available