G252C (p.Gly252Cys) variant of COL3A1 (Collagen alpha-1(III) chain)
G252C (p.Gly252Cys) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data, published literature, and structural context.
G252C (p.Gly252Cys) variant details
- p.Gly252Cys
- rs587779705
- ClinGen CA10576585
- ClinVar RCV000222891
- ClinVar RCV001589122
- Pathogenic/Likely pathogenic
- not provided; Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.905
- REVEL 0.95
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.95
- CADD 32.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Ehlers-Danlos syndrome, type 4)
- EBI: Pathogenic (in EDSVASC)
- UniProt: Pathogenic (in EDSVASC)
- 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)