G60R (p.Gly60Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
G60R (p.Gly60Arg) 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 0.79 / 1. The record also includes population frequency data and structural context.
G60R (p.Gly60Arg) variant details
- p.Gly60Arg
- rs773434184
- ClinGen CA6536080
- ClinVar RCV003551021
- ExAC rs773434184
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- REVEL 0.77
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.05
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available