R38H (p.Arg38His) variant of HCN1 (O60741)
R38H (p.Arg38His) 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 0.36 / 1. The record also includes population frequency data and structural context.
R38H (p.Arg38His) variant details
- p.Arg38His
- rs761449013
- ClinGen CA359706716
- cosmic curated COSV10029
- ClinVar RCV006562059
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.19
- AlphaMissense 0.19
- MetaLR 0.72
- MetaSVM -0.10
- CADD 19.20
- PolyPhen-2 0.04
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available