Q88E (p.Gln88Glu) variant of COL11A1 (Collagen alpha-1(XI) chain)
Q88E (p.Gln88Glu) 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 0.36 / 1. The record also includes population frequency data and structural context.
Q88E (p.Gln88Glu) variant details
- p.Gln88Glu
- rs745563977
- ClinGen CA975518
- ClinVar RCV002975687
- ExAC rs745563977
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 22.40
- PolyPhen-2 0.08
- SIFT 0.22
- 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