A6S (p.Ala6Ser) variant of COL5A2 (Collagen alpha-2(V) chain)
A6S (p.Ala6Ser) 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 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- rs372910621
- ClinGen CA2023216
- ClinVar RCV001813792
- ClinVar RCV002234443
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; not provided; Familial thoracic aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.28
- CADD 19.30
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; not provided; Familial)
- EBI: Benign
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)