P124R (p.Pro124Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
P124R (p.Pro124Arg) 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 COL2A1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
P124R (p.Pro124Arg) variant details
- p.Pro124Arg
- rs754127735
- ClinGen CA6535975
- ClinVar RCV004531833
- ExAC rs754127735
- Uncertain significance
- COL2A1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.80
- CADD 28.00
- PolyPhen-2 0.76
- SIFT 0.02
- ClinVar: Uncertain significance (COL2A1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available