E29G (p.Glu29Gly) variant of COL5A2 (Collagen alpha-2(V) chain)
E29G (p.Glu29Gly) in COL5A2 (Collagen alpha-2(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; not provided; Familial thoracic aortic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
E29G (p.Glu29Gly) variant details
- p.Glu29Gly
- rs780865605
- ClinGen CA2023209
- ClinVar RCV002242282
- ClinVar RCV004770051
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; not provided; Familial thoracic aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.19
- CADD 22.90
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; not provided; Familial)
- EBI: Benign
- UniProt: Benign
- Most common in the East Asian population (allele frequency 0.00039)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)