G74S (p.Gly74Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
G74S (p.Gly74Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided; Osteogenesis imperfecta type I. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
G74S (p.Gly74Ser) variant details
- p.Gly74Ser
- rs776365460
- ClinGen CA4346555
- cosmic curated COSV10439
- ClinVar RCV001794592
- Uncertain significance
- not specified; not provided; Osteogenesis imperfecta type I
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.22
- CADD 21.50
- PolyPhen-2 0.07
- SIFT 0.29
- ClinVar: Uncertain significance (not specified; not provided; Osteogenesis imperfecta type I)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)