E52Q (p.Glu52Gln) variant of COL11A1 (Collagen alpha-1(XI) chain)
E52Q (p.Glu52Gln) 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 COL11A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
E52Q (p.Glu52Gln) variant details
- p.Glu52Gln
- rs761765612
- NCI-TCGA Cosmic COSV1006
- NCI-TCGA Cosmic COSV6219
- cosmic curated COSV62195
- Uncertain significance
- COL11A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- REVEL 0.16
- ESM-1b 1.00
- AlphaMissense 0.13
- CADD 24.40
- PolyPhen-2 0.38
- SIFT 0.05
- ClinVar: Uncertain significance (COL11A1-related disorder)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available