G612S (p.Gly612Ser) variant of COL3A1 (Collagen alpha-1(III) chain)
G612S (p.Gly612Ser) in COL3A1 (Collagen alpha-1(III) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Ehlers-Danlos syndrome, type 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
G612S (p.Gly612Ser) variant details
- p.Gly612Ser
- rs2153502803
- ClinGen CA349853425
- ClinVar RCV001973787
- Ensembl rs2153502803
- Likely pathogenic
- Ehlers-Danlos syndrome, type 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- AlphaMissense 0.76
- MetaLR 0.95
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Ehlers-Danlos syndrome, type 4)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)