M101V (p.Met101Val) variant of HCN1 (O60741)
M101V (p.Met101Val) 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 0.57 / 1. The record also includes population frequency data and structural context.
M101V (p.Met101Val) variant details
- p.Met101Val
- rs1739996550
- ClinGen CA359706328
- ClinVar RCV006557935
- TOPMed rs1739996550
- Uncertain significance
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.49
- AlphaMissense 0.85
- MetaLR 0.69
- MetaSVM 0.50
- CADD 22.10
- PolyPhen-2 0.97
- ClinVar: Uncertain significance (Early-infantile DEE)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available