G369V (p.Gly369Val) variant of COL3A1 (Collagen alpha-1(III) chain)
G369V (p.Gly369Val) 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 Familial aortopathy. 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.
G369V (p.Gly369Val) variant details
- p.Gly369Val
- rs1057521930
- ClinGen CA349850952
- cosmic curated COSV58581
- ClinVar RCV000781311
- Likely pathogenic
- Familial aortopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.907
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Familial aortopathy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)