R130H (p.Arg130His) variant of COL5A2 (Collagen alpha-2(V) chain)
R130H (p.Arg130His) 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; Familial thoracic aortic aneurysm and a. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
R130H (p.Arg130His) variant details
- p.Arg130His
- rs377331666
- ClinGen CA2023108
- ClinVar RCV000488093
- ClinVar RCV000697227
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- REVEL 0.47
- CADD 25.00
- PolyPhen-2 0.99
- SIFT 0.27
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aorti)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)