L42P (p.Leu42Pro) variant of COL11A1 (Collagen alpha-1(XI) chain)
L42P (p.Leu42Pro) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes structural context.
L42P (p.Leu42Pro) variant details
- p.Leu42Pro
- rs2526238537
- ClinGen CA341168890
- ClinVar RCV003565829
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.99
- ESM-1b 1.00
- AlphaMissense 0.98
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available