G796R (p.Gly796Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
G796R (p.Gly796Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
G796R (p.Gly796Arg) variant details
- p.Gly796Arg
- rs2101750154
- ClinGen CA341166989
- ClinVar RCV001976544
- UniProt VAR 065904
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.991
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Pathogenic (in FBCG1)
- UniProt: Pathogenic (in FBCG1)
- Structural context available
- Cited in: Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene. (PMID 21035103)