R38L (p.Arg38Leu) variant of HCN1 (O60741)
R38L (p.Arg38Leu) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R38L (p.Arg38Leu) variant details
- p.Arg38Leu
- ExAC rs761449013
- TOPMed rs761449013
- gnomAD rs761449013
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.25
- AlphaMissense 0.10
- MetaLR 0.72
- MetaSVM 0.00
- CADD 15.20
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00014)
- Structural context available