P57A (p.Pro57Ala) variant of COL1A1 (Collagen alpha-1(I) chain)
P57A (p.Pro57Ala) 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 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
P57A (p.Pro57Ala) variant details
- p.Pro57Ala
- rs773571012
- ClinGen CA400228508
- ClinVar RCV003517081
- ExAC rs773571012
- Likely benign
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.20
- ESM-1b 0.12
- AlphaMissense 0.09
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Likely benign (Osteogenesis imperfecta type I)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)