V76I (p.Val76Ile) variant of COL11A1 (Collagen alpha-1(XI) chain)
V76I (p.Val76Ile) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
V76I (p.Val76Ile) variant details
- p.Val76Ile
- ExAC rs774327003
- TOPMed rs774327003
- gnomAD rs774327003
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available