G57R (p.Gly57Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
G57R (p.Gly57Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. 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.
G57R (p.Gly57Arg) variant details
- p.Gly57Arg
- ESP rs201137000
- ExAC rs201137000
- gnomAD rs201137000
- Likely pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- REVEL 0.96
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available