H48Q (p.His48Gln) variant of COL1A1 (Collagen alpha-1(I) chain)
H48Q (p.His48Gln) 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 Cardiovascular phenotype; Ehlers-Danlos syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data, published literature, and structural context.
H48Q (p.His48Gln) variant details
- p.His48Gln
- rs374065372
- ClinGen CA8645823
- ClinVar RCV000819589
- ClinVar RCV001531431
- Conflicting interpretations
- Cardiovascular phenotype; Ehlers-Danlos syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.116
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 2.24
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Conflicting classifications of pathogenicity (Cardiovascular phenotype; Ehlers-Danlos syndrome; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the 1KG:CHB population (allele frequency 0.015)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)