P57T (p.Pro57Thr) variant of COL1A1 (Collagen alpha-1(I) chain)
P57T (p.Pro57Thr) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
P57T (p.Pro57Thr) variant details
- p.Pro57Thr
- ExAC rs773571012
- TOPMed rs773571012
- gnomAD rs773571012
- Likely benign
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.16
- CADD 19.20
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Likely benign (Osteogenesis imperfecta type I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CDX population (allele frequency 0.017)
- Structural context available