I115V (p.Ile115Val) variant of COL2A1 (Collagen alpha-1(II) chain)
I115V (p.Ile115Val) 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 0.22 / 1. The record also includes population frequency data and structural context.
I115V (p.Ile115Val) variant details
- p.Ile115Val
- rs1329462343
- ClinGen CA384525230
- ClinVar RCV003546369
- TOPMed rs1329462343
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.22
- CADD 11.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available