G727R (p.Gly727Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
G727R (p.Gly727Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Marshall syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes population frequency data and structural context.
G727R (p.Gly727Arg) variant details
- p.Gly727Arg
- TOPMed rs1388009608
- gnomAD rs1388009608
- Pathogenic
- Marshall syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.934
- REVEL 0.99
- ESM-1b 1.00
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.06
- CADD 27.40
- ClinVar: Pathogenic (Marshall syndrome)
- UniProt: Pathogenic
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available