H122D (p.His122Asp) variant of COL11A1 (Collagen alpha-1(XI) chain)
H122D (p.His122Asp) 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 0.59 / 1. The record also includes structural context.
H122D (p.His122Asp) variant details
- p.His122Asp
- gnomAD rs1469555372
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- ESM-1b 1.00
- AlphaMissense 0.09
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available