G478C (p.Gly478Cys) variant of COL5A1 (Collagen alpha-1(V) chain)
G478C (p.Gly478Cys) in COL5A1 (Collagen alpha-1(V) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ehlers-Danlos syndrome, classic type, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
G478C (p.Gly478Cys) variant details
- p.Gly478Cys
- rs1835194794
- ClinGen CA375441266
- ClinVar RCV002240222
- Ensembl rs1835194794
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- AlphaMissense 0.97
- MetaLR 0.99
- MetaSVM 0.99
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.57
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)