C50* (p.Cys50Ter) variant of COL3A1 (Collagen alpha-1(III) chain)
C50* (p.Cys50Ter) in COL3A1 (Collagen alpha-1(III) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
C50* (p.Cys50Ter) variant details
- p.Cys50Ter
- rs559102186
- ClinGen CA349847006
- ClinVar RCV003022385
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.423
- CADD 35.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Vascular Ehlers-Danlos Syndrome. (PMID 20301667)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)