R9H (p.Arg9His) variant of HCN4 (Q9Y3Q4)
R9H (p.Arg9His) in HCN4 (Q9Y3Q4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R9H (p.Arg9His) variant details
- p.Arg9His
- rs1045593470
- gnomAD rs1045593470
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.718
- REVEL 0.63
- MetaLR 0.95
- MetaSVM 1.11
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.4e-07)
- Structural context available