I67L (p.Ile67Leu) variant of COL2A1 (Collagen alpha-1(II) chain)
I67L (p.Ile67Leu) 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; COL2A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
I67L (p.Ile67Leu) variant details
- p.Ile67Leu
- rs2540187598
- ClinGen CA384526222
- ClinVar RCV004534359
- ClinVar RCV006473108
- Uncertain significance
- not provided; COL2A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.16
- CADD 20.80
- PolyPhen-2 0.03
- SIFT 0.09
- ClinVar: Uncertain significance (not provided; COL2A1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available