H48R (p.His48Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
H48R (p.His48Arg) in COL1A1 (Collagen alpha-1(I) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H48R (p.His48Arg) variant details
- p.His48Arg
- rs1273874412
- ClinGen CA400228597
- ClinVar RCV001069144
- gnomAD rs1273874412
- Conflicting interpretations
- not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (not provided; Osteogenesis imperfecta type I)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)