L42Q (p.Leu42Gln) variant of COL11A1 (Collagen alpha-1(XI) chain)
L42Q (p.Leu42Gln) 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 COL11A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.96 / 1. The record also includes structural context.
L42Q (p.Leu42Gln) variant details
- p.Leu42Gln
- rs2526238537
- ClinGen CA341168891
- ClinVar RCV004527994
- Uncertain significance
- COL11A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.962
- ESM-1b 1.00
- AlphaMissense 0.92
- ClinVar: Uncertain significance (COL11A1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available