F81Y (p.Phe81Tyr) variant of HCN1 (O60741)
F81Y (p.Phe81Tyr) in HCN1 (O60741) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
F81Y (p.Phe81Tyr) variant details
- p.Phe81Tyr
- rs886043302
- ClinGen CA10605354
- ClinVar RCV000292789
- gnomAD rs886043302
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.21
- CADD 11.80
- PolyPhen-2 0.02
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available