C69R (p.Cys69Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
C69R (p.Cys69Arg) 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 0.85 / 1. The record also includes population frequency data and structural context.
C69R (p.Cys69Arg) variant details
- p.Cys69Arg
- rs749799023
- ClinGen CA6536075
- ClinVar RCV002996317
- ExAC rs749799023
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.848
- REVEL 0.98
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available