V79M (p.Val79Met) variant of COL5A2 (Collagen alpha-2(V) chain)
V79M (p.Val79Met) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
V79M (p.Val79Met) variant details
- p.Val79Met
- rs1181992113
- ClinGen CA349867871
- ClinVar RCV002632894
- ClinVar RCV005542961
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.09
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; Ehlers-)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)