S87F (p.Ser87Phe) variant of HCN4 (Q9Y3Q4)
S87F (p.Ser87Phe) in HCN4 (Q9Y3Q4) 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 0.48 / 1. The record also includes population frequency data and structural context.
S87F (p.Ser87Phe) variant details
- p.Ser87Phe
- Ensembl rs866449137
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.36
- AlphaMissense 0.29
- MetaLR 0.76
- MetaSVM 0.82
- CADD 23.90
- PolyPhen-2 0.84
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available