P93R (p.Pro93Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
P93R (p.Pro93Arg) 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 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
P93R (p.Pro93Arg) variant details
- p.Pro93Arg
- rs2509258201
- ClinGen CA400228058
- ClinVar RCV003518682
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.611
- REVEL 0.58
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 26.70
- PolyPhen-2 0.19
- SIFT 0.00
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)