F4S (p.Phe4Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
F4S (p.Phe4Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
F4S (p.Phe4Ser) variant details
- p.Phe4Ser
- TOPMed rs1245366871
- gnomAD rs1245366871
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.89
- ESM-1b 0.00
- AlphaMissense 0.63
- CADD 33.00
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- UniProt: Uncertain significance
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available