R8W (p.Arg8Trp) variant of COL1A2 (Collagen alpha-2(I) chain)
R8W (p.Arg8Trp) in COL1A2 (Collagen alpha-2(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; Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R8W (p.Arg8Trp) variant details
- p.Arg8Trp
- rs1791554829
- ClinGen CA368218812
- ClinVar RCV003787962
- Uncertain significance
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- REVEL 0.76
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)