G564A (p.Gly564Ala) variant of COL3A1 (Collagen alpha-1(III) chain)
G564A (p.Gly564Ala) 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 0.88 / 1. The record also includes published literature and structural context.
G564A (p.Gly564Ala) variant details
- p.Gly564Ala
- rs193922176
- ClinGen CA004438
- ClinVar RCV000029618
- Ensembl rs193922176
- Likely pathogenic
- Familial aortopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- AlphaMissense 0.76
- MetaLR 0.99
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.68
- ClinVar: Likely pathogenic (Familial aortopathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)