V67M (p.Val67Met) variant of TGFB2 (P61812)
V67M (p.Val67Met) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Ehlers-Danlos syndrome; not specified; Loeys-Dietz syndrome 4. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
V67M (p.Val67Met) variant details
- p.Val67Met
- rs201761868
- ClinGen CA325359
- ClinVar RCV000200774
- ClinVar RCV000765073
- Conflicting interpretations
- Ehlers-Danlos syndrome; not specified; Loeys-Dietz syndrome 4
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.27
- CADD 29.20
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Ehlers-Danlos syndrome; not specified; Loeys-Dietz syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 0.00031)
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)