D97G (p.Asp97Gly) variant of COL1A1 (Collagen alpha-1(I) chain)
D97G (p.Asp97Gly) 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 Osteogenesis imperfecta type I; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D97G (p.Asp97Gly) variant details
- p.Asp97Gly
- rs758351823
- ClinGen CA8645793
- ClinVar RCV001245549
- ClinVar RCV004590276
- Conflicting interpretations
- Osteogenesis imperfecta type I; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.212
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.00
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Conflicting classifications of pathogenicity (Osteogenesis imperfecta type I; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)