P87S (p.Pro87Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
P87S (p.Pro87Ser) 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 0.29 / 1. The record also includes structural context.
P87S (p.Pro87Ser) variant details
- p.Pro87Ser
- ESP rs143980299
- TOPMed rs143980299
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.18
- ESM-1b 1.00
- AlphaMissense 0.17
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- UniProt: Uncertain significance
- Structural context available