P100R (p.Pro100Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
P100R (p.Pro100Arg) 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 0.31 / 1. The record also includes population frequency data and structural context.
P100R (p.Pro100Arg) variant details
- p.Pro100Arg
- rs763903953
- ClinGen CA6536051
- ClinVar RCV002041606
- ExAC rs763903953
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.30
- CADD 15.80
- PolyPhen-2 0.07
- SIFT 0.69
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- Structural context available