R38S (p.Arg38Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
R38S (p.Arg38Ser) 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 not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
R38S (p.Arg38Ser) variant details
- p.Arg38Ser
- rs1462108134
- ClinGen CA368219061
- ClinVar RCV002272099
- ClinVar RCV006558728
- Uncertain significance
- not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta t
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.34
- CADD 23.30
- PolyPhen-2 0.14
- SIFT 0.27
- ClinVar: Uncertain significance (not provided; Ehlers-Danlos syndrome, classic type, 1; Osteogene)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)