G104R (p.Gly104Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G104R (p.Gly104Arg) 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 0.90 / 1. The record also includes population frequency data and structural context.
G104R (p.Gly104Arg) variant details
- p.Gly104Arg
- rs764210489
- ClinGen CA6536019
- ClinVar RCV000485870
- ExAC rs764210489
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.897
- REVEL 0.91
- AlphaMissense 0.91
- MetaLR 0.97
- MetaSVM 1.08
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available