R40C (p.Arg40Cys) variant of HCN4 (Q9Y3Q4)
R40C (p.Arg40Cys) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
R40C (p.Arg40Cys) variant details
- p.Arg40Cys
- gnomAD rs1300096638
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.37
- MetaLR 0.72
- MetaSVM 0.27
- CADD 24.10
- PolyPhen-2 0.00
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available