T87M (p.Thr87Met) variant of COL5A2 (Collagen alpha-2(V) chain)
T87M (p.Thr87Met) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
T87M (p.Thr87Met) variant details
- p.Thr87Met
- rs778591411
- ClinGen CA2023169
- ClinVar RCV002235066
- ExAC rs778591411
- Conflicting interpretations
- Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aortic aneurysm and a
- Missense
- Variant Prioritization Score for Impact Estimate 0.277
- REVEL 0.10
- CADD 21.70
- PolyPhen-2 0.26
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome, classic type, 1; Familial thoracic aorti)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00041)
- Structural context available
- Cited in: Classic Ehlers-Danlos Syndrome. (PMID 20301422)