G53E (p.Gly53Glu) variant of COL11A1 (Collagen alpha-1(XI) chain)
G53E (p.Gly53Glu) in COL11A1 (Collagen alpha-1(XI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of COL11A1-related disorder; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
G53E (p.Gly53Glu) variant details
- p.Gly53Glu
- rs139542185
- ClinGen CA975539
- ClinVar RCV002009841
- ESP rs139542185
- Conflicting interpretations
- COL11A1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.695
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.48
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (COL11A1-related disorder; not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available