R733H (p.Arg733His) variant of COL1A1 (Collagen alpha-1(I) chain)
R733H (p.Arg733His) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as conflicting interpretations in the context of not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
R733H (p.Arg733His) variant details
- p.Arg733His
- TOPMed rs1313847382
- gnomAD rs1313847382
- Conflicting interpretations
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.91
- ESM-1b 1.00
- AlphaMissense 0.18
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Osteogenesis imperfecta type I)
- UniProt: Conflicting interpretations
- Most common in the HGDP:YORUBA population (allele frequency 0.19)
- Structural context available