E84K (p.Glu84Lys) variant of COL2A1 (Collagen alpha-1(II) chain)
E84K (p.Glu84Lys) in COL2A1 (Collagen alpha-1(II) 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 0.74 / 1. The record also includes population frequency data and structural context.
E84K (p.Glu84Lys) variant details
- p.Glu84Lys
- rs2540187418
- ClinGen CA384525958
- ClinVar RCV003542555
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.738
- REVEL 0.69
- CADD 28.00
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available