W10* (p.Trp10Ter) variant of COL3A1 (Collagen alpha-1(III) chain)
W10* (p.Trp10Ter) 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 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
W10* (p.Trp10Ter) variant details
- p.Trp10Ter
- rs587779677
- ClinGen CA006034
- ClinVar RCV000087673
- ClinVar RCV006277707
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.864
- CADD 38.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)