G388V (p.Gly388Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G388V (p.Gly388Val) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Osteogenesis imperfecta, perinatal lethal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
G388V (p.Gly388Val) variant details
- p.Gly388Val
- rs72658106
- ClinGen CA162921152
- ClinVar RCV001775390
- ClinVar RCV004699468
- Pathogenic
- not provided; Osteogenesis imperfecta, perinatal lethal
- Missense
- Variant Prioritization Score for Impact Estimate 0.903
- REVEL 0.98
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic (not provided; Osteogenesis imperfecta, perinatal lethal)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)