A23P (p.Ala23Pro) variant of COL11A1 (Collagen alpha-1(XI) chain)
A23P (p.Ala23Pro) 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 0.73 / 1. The record also includes structural context.
A23P (p.Ala23Pro) variant details
- p.Ala23Pro
- TOPMed rs1386580787
- gnomAD rs1386580787
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.727
- ESM-1b 1.00
- AlphaMissense 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available