P80R (p.Pro80Arg) variant of HCN4 (Q9Y3Q4)
P80R (p.Pro80Arg) in HCN4 (Q9Y3Q4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P80R (p.Pro80Arg) variant details
- p.Pro80Arg
- Ensembl rs2043137679
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.22
- MetaLR 0.72
- MetaSVM 0.04
- CADD 18.20
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9.7e-07)
- Structural context available