R40G (p.Arg40Gly) variant of HCN4 (Q9Y3Q4)
R40G (p.Arg40Gly) in HCN4 (Q9Y3Q4) 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 and structural context.
R40G (p.Arg40Gly) variant details
- p.Arg40Gly
- gnomAD rs1300096638
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.29
- MetaLR 0.66
- MetaSVM -0.07
- CADD 22.30
- PolyPhen-2 0.05
- SIFT 0.18
- Population evidence available
- Structural context available