Q98R (p.Gln98Arg) variant of COL5A2 (Collagen alpha-2(V) chain)
Q98R (p.Gln98Arg) 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 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
Q98R (p.Gln98Arg) variant details
- p.Gln98Arg
- rs374402209
- ClinGen CA2023162
- ClinVar RCV002242114
- ClinVar RCV003382522
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; not provided; Familial thoracic aortic
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.07
- CADD 17.50
- PolyPhen-2 0.19
- SIFT 0.41
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; not provided; Familial)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)