G802V (p.Gly802Val) variant of COL1A2 (Collagen alpha-2(I) chain)
G802V (p.Gly802Val) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Osteogenesis imperfecta; Ehlers-Danlos syndrome, arthrochalasia type, 2; not pro. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
G802V (p.Gly802Val) variant details
- p.Gly802Val
- rs1562906013
- ClinGen CA368223872
- ClinVar RCV000790932
- ClinVar RCV000791086
- Likely pathogenic
- Osteogenesis imperfecta; Ehlers-Danlos syndrome, arthrochalasia type, 2; not pro
- Missense
- Variant Prioritization Score for Impact Estimate 0.928
- AlphaMissense 0.81
- MetaLR 0.98
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Likely pathogenic (Osteogenesis imperfecta; Ehlers-Danlos syndrome, arthrochalasia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: COL1A1- and COL1A2-Related Osteogenesis Imperfecta. (PMID 20301472)