P57S (p.Pro57Ser) variant of COL1A1 (Collagen alpha-1(I) chain)
P57S (p.Pro57Ser) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P57S (p.Pro57Ser) variant details
- p.Pro57Ser
- rs773571012
- ClinGen CA400228506
- ClinVar RCV003011753
- ExAC rs773571012
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.19
- ESM-1b 0.24
- AlphaMissense 0.16
- CADD 19.60
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)