R38P (p.Arg38Pro) variant of HCN1 (O60741)
R38P (p.Arg38Pro) in HCN1 (O60741) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
R38P (p.Arg38Pro) variant details
- p.Arg38Pro
- ExAC rs761449013
- TOPMed rs761449013
- gnomAD rs761449013
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.26
- AlphaMissense 0.08
- MetaLR 0.70
- MetaSVM -0.21
- CADD 16.20
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available