F442L (p.Phe442Leu) variant of TGFBR2 (TGF-beta receptor type-2)
F442L (p.Phe442Leu) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Familial thoracic aortic aneurysm and aortic dissection. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
F442L (p.Phe442Leu) variant details
- p.Phe442Leu
- cosmic curated COSV55457
- Ensembl rs2125439072
- cosmic curated COSV10734
- Conflicting interpretations
- not provided; Familial thoracic aortic aneurysm and aortic dissection
- Missense
- Variant Prioritization Score for Impact Estimate 0.658
- REVEL 0.83
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Familial thoracic aortic aneurysm and aortic disse)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available