A18S (p.Ala18Ser) variant of TGFBR1 (TGF-beta receptor type-1)
A18S (p.Ala18Ser) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ehlers-Danlos syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A18S (p.Ala18Ser) variant details
- p.Ala18Ser
- rs1243596219
- ClinGen CA374223598
- ClinVar RCV002278081
- TOPMed rs1243596219
- Uncertain significance
- Ehlers-Danlos syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.17
- CADD 20.00
- PolyPhen-2 0.00
- SIFT 0.70
- ClinVar: Uncertain significance (Ehlers-Danlos syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome. (PMID 28161018)