P49H (p.Pro49His) variant of COL1A2 (Collagen alpha-2(I) chain)
P49H (p.Pro49His) 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 Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
P49H (p.Pro49His) variant details
- p.Pro49His
- rs764064979
- ClinGen CA4346535
- ClinVar RCV002700770
- ExAC rs764064979
- Uncertain significance
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.51
- CADD 22.90
- PolyPhen-2 0.36
- SIFT 0.02
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)