R41H (p.Arg41His) variant of COL1A2 (Collagen alpha-2(I) chain)
R41H (p.Arg41His) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R41H (p.Arg41His) variant details
- p.Arg41His
- rs139528613
- ClinGen CA4346492
- ClinVar RCV000260651
- ClinVar RCV000371779
- Benign/Likely benign
- Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.601
- REVEL 0.47
- CADD 26.10
- PolyPhen-2 0.73
- SIFT 0.10
- ClinVar: Benign/Likely benign (Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:ASW population (allele frequency 0.029)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)