F81L (p.Phe81Leu) variant of HCN1 (O60741)
F81L (p.Phe81Leu) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Early-infantile DEE. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
F81L (p.Phe81Leu) variant details
- p.Phe81Leu
- rs2112109104
- ClinGen CA359706450
- ClinVar RCV006557974
- Ensembl rs2112109104
- Likely benign
- Early-infantile DEE
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.25
- CADD 0.85
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Likely benign (Early-infantile DEE)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Structural context available