I118M (p.Ile118Met) variant of COL11A1 (Collagen alpha-1(XI) chain)
I118M (p.Ile118Met) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar 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 0.60 / 1. The record also includes structural context.
I118M (p.Ile118Met) variant details
- p.Ile118Met
- TOPMed rs944161796
- gnomAD rs944161796
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- ESM-1b 1.00
- AlphaMissense 0.11
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Structural context available