Q42R (p.Gln42Arg) variant of COL1A1 (Collagen alpha-1(I) chain)
Q42R (p.Gln42Arg) 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, perinatal lethal; Osteogenesis imperfecta. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Q42R (p.Gln42Arg) variant details
- p.Gln42Arg
- rs367643097
- ClinGen CA8645826
- ClinVar RCV000815235
- ClinVar RCV004028845
- Conflicting interpretations
- not provided; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta
- Missense
- Variant Prioritization Score for Impact Estimate 0.375
- REVEL 0.23
- ESM-1b 1.00
- AlphaMissense 0.19
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.34
- ClinVar: Conflicting classifications of pathogenicity (not provided; Osteogenesis imperfecta, perinatal lethal; Osteoge)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.0052)
- Structural context available
- Cited in: Caffey Disease. (PMID 22855962)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)