V131L (p.Val131Leu) variant of COL11A1 (Collagen alpha-1(XI) chain)
V131L (p.Val131Leu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes structural context.
V131L (p.Val131Leu) variant details
- p.Val131Leu
- TOPMed rs1158320165
- gnomAD rs1158320165
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- ESM-1b 0.72
- AlphaMissense 0.23
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available