E121K (p.Glu121Lys) variant of COL11A1 (Collagen alpha-1(XI) chain)
E121K (p.Glu121Lys) 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 0.67 / 1. The record also includes population frequency data and structural context.
E121K (p.Glu121Lys) variant details
- p.Glu121Lys
- rs762173332
- ClinGen CA975474
- ClinVar RCV003480542
- 1000Genomes rs762173332
- Conflicting interpretations
- COL11A1-related disorder; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.10
- CADD 24.10
- PolyPhen-2 0.42
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (COL11A1-related disorder; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available