R94S (p.Arg94Ser) variant of HCN4 (Q9Y3Q4)
R94S (p.Arg94Ser) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
R94S (p.Arg94Ser) variant details
- p.Arg94Ser
- gnomAD rs1199371021
- Missense
- Variant Prioritization Score for Impact Estimate 0.664
- REVEL 0.57
- MetaLR 0.89
- MetaSVM 0.95
- CADD 23.70
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 2e-05)
- Structural context available