D78G (p.Asp78Gly) variant of COL5A2 (Collagen alpha-2(V) chain)
D78G (p.Asp78Gly) 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 Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
D78G (p.Asp78Gly) variant details
- p.Asp78Gly
- rs201022138
- ClinGen CA349867911
- ClinVar RCV002975382
- 1000Genomes rs201022138
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.22
- CADD 22.40
- PolyPhen-2 0.05
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)