R8W (p.Arg8Trp) variant of COL1A1 (Collagen alpha-1(I) chain)
R8W (p.Arg8Trp) 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 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs775349207
- ClinGen CA8645892
- ClinVar RCV003518440
- ExAC rs775349207
- Uncertain significance
- Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.846
- REVEL 0.82
- ESM-1b 1.00
- AlphaMissense 0.73
- CADD 33.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)