R46T (p.Arg46Thr) variant of HCN4 (Q9Y3Q4)
R46T (p.Arg46Thr) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R46T (p.Arg46Thr) variant details
- p.Arg46Thr
- TOPMed rs1330528056
- gnomAD rs1330528056
- Missense
- Variant Prioritization Score for Impact Estimate 0.437
- REVEL 0.28
- MetaLR 0.72
- MetaSVM 0.23
- CADD 23.10
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available