G57C (p.Gly57Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
G57C (p.Gly57Cys) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data and structural context.
G57C (p.Gly57Cys) variant details
- p.Gly57Cys
- rs201137000
- ClinGen CA368219174
- ClinVar RCV003141642
- ESP rs201137000
- Likely pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.906
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available