H122Q (p.His122Gln) variant of COL11A1 (Collagen alpha-1(XI) chain)
H122Q (p.His122Gln) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.10 / 1. The record also includes population frequency data and structural context.
H122Q (p.His122Gln) variant details
- p.His122Gln
- rs2526189139
- ClinGen CA341167891
- ClinVar RCV003059230
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.105
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 1.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available