R3G (p.Arg3Gly) variant of COL2A1 (Collagen alpha-1(II) chain)
R3G (p.Arg3Gly) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
R3G (p.Arg3Gly) variant details
- p.Arg3Gly
- rs898585011
- ClinGen CA384528476
- ClinVar RCV001324415
- TOPMed rs898585011
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.26
- CADD 23.10
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available