A9E (p.Ala9Glu) variant of COL5A1 (Collagen alpha-1(V) chain)
A9E (p.Ala9Glu) 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 not provided; Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
A9E (p.Ala9Glu) variant details
- p.Ala9Glu
- rs900216804
- ClinGen CA201068565
- ClinVar RCV001258198
- ClinVar RCV003442797
- Conflicting interpretations
- not provided; Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.34
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.28
- ClinVar: Conflicting classifications of pathogenicity (not provided; Ehlers-Danlos syndrome, classic type, 1; Familial)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00056)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)