F50S (p.Phe50Ser) variant of FH (P07954)
F50S (p.Phe50Ser) in FH (P07954) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
F50S (p.Phe50Ser) variant details
- p.Phe50Ser
- Ensembl rs2147925286
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.62
- CADD 23.30
- PolyPhen-2 0.03
- SIFT 0.05
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available