G745R (p.Gly745Arg) variant of COL11A1 (Collagen alpha-1(XI) chain)
G745R (p.Gly745Arg) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of COL11A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
G745R (p.Gly745Arg) variant details
- p.Gly745Arg
- Ensembl rs1557921522
- Likely pathogenic
- COL11A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.998
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Likely pathogenic (COL11A1-related disorder)
- UniProt: Likely pathogenic
- Structural context available