G26D (p.Gly26Asp) variant of COL1A1 (Collagen alpha-1(I) chain)
G26D (p.Gly26Asp) 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 Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Car. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
G26D (p.Gly26Asp) variant details
- p.Gly26Asp
- rs151171179
- ClinGen CA8645881
- ClinVar RCV000786920
- ClinVar RCV001091447
- Conflicting interpretations
- Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Car
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.55
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperf)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:BIAKA population (allele frequency 0.023)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: Caffey Disease. (PMID 22855962)