G168C (p.Gly168Cys) variant of COL2A1 (Collagen alpha-1(II) chain)
G168C (p.Gly168Cys) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Type 2 collagenopathy. 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.
G168C (p.Gly168Cys) variant details
- p.Gly168Cys
- NCI-TCGA Cosmic COSV6153
- Likely pathogenic
- Type 2 collagenopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.899
- REVEL 0.98
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Type 2 collagenopathy)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available