G256V (p.Gly256Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G256V (p.Gly256Val) 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 Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes published literature and structural context.
G256V (p.Gly256Val) variant details
- p.Gly256Val
- rs67525025
- ClinGen CA162918982
- ClinVar RCV000507846
- ClinVar RCV001542469
- Pathogenic
- Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta type I; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.997
- MutPred 1.00
- ClinVar: Pathogenic (Ehlers-Danlos syndrome, classic type, 1; Osteogenesis imperfecta)
- EBI: Pathogenic (in OI4)
- UniProt: Pathogenic (in OI4)
- Structural context available
- Cited in: Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV. (PMID 16786509)
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)