G110R (p.Gly110Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
G110R (p.Gly110Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Connective tissue disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
G110R (p.Gly110Arg) variant details
- p.Gly110Arg
- rs141978499
- ClinGen CA975481
- cosmic curated COSV10591
- ClinVar RCV000351685
- Uncertain significance
- Connective tissue disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.72
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (Connective tissue disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Cited in: Stickler Syndrome. (PMID 20301479)