R128H (p.Arg128His) variant of COL5A2 (Collagen alpha-2(V) chain)
R128H (p.Arg128His) 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 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
R128H (p.Arg128His) variant details
- p.Arg128His
- rs757439328
- ClinGen CA2023110
- NCI-TCGA Cosmic COSV6641
- ClinVar RCV002240507
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.685
- REVEL 0.61
- CADD 26.20
- PolyPhen-2 0.99
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aorti)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)