S49F (p.Ser49Phe) variant of FH (P07954)
S49F (p.Ser49Phe) in FH (P07954) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
S49F (p.Ser49Phe) variant details
- p.Ser49Phe
- rs1200934499
- NCI-TCGA Cosmic COSV6381
- TOPMed rs1200934499
- gnomAD rs1200934499
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- REVEL 0.55
- CADD 24.80
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available