R75H (p.Arg75His) variant of KCNQ2 (O43526)
R75H (p.Arg75His) in KCNQ2 (O43526) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
R75H (p.Arg75His) variant details
- p.Arg75His
- TOPMed rs1415895572
- gnomAD rs1415895572
- Missense
- Variant Prioritization Score for Impact Estimate 0.749
- REVEL 0.75
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available