M101L (p.Met101Leu) variant of HCN1 (O60741)
M101L (p.Met101Leu) 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 0.47 / 1. The record also includes population frequency data and structural context.
M101L (p.Met101Leu) variant details
- p.Met101Leu
- TOPMed rs1739996550
- gnomAD rs1739996550
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.28
- AlphaMissense 0.95
- MetaLR 0.69
- MetaSVM 0.55
- CADD 22.00
- PolyPhen-2 0.88
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available