G71R (p.Gly71Arg) variant of HCN1 (O60741)
G71R (p.Gly71Arg) in HCN1 (O60741) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G71R (p.Gly71Arg) variant details
- p.Gly71Arg
- ExAC rs771362022
- gnomAD rs771362022
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.42
- AlphaMissense 0.99
- MetaLR 0.49
- MetaSVM 0.07
- CADD 18.20
- PolyPhen-2 0.38
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available