D446N (p.Asp446Asn) variant of TGFBR2 (TGF-beta receptor type-2)
D446N (p.Asp446Asn) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of TGFBR2-related disorder; not provided; Loeys-Dietz syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
D446N (p.Asp446Asn) variant details
- p.Asp446Asn
- rs886039551
- ClinGen CA10588355
- NCI-TCGA Cosmic COSV5544
- cosmic curated COSV55445
- Pathogenic/Likely pathogenic
- TGFBR2-related disorder; not provided; Loeys-Dietz syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.902
- AlphaMissense 1.00
- MetaLR 0.99
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.63
- ClinVar: Pathogenic/Likely pathogenic (TGFBR2-related disorder; not provided; Loeys-Dietz syndrome 1)
- EBI: Pathogenic (in LDS2)
- UniProt: Pathogenic (in LDS2)
- Structural context available
- Cited in: Two novel and one known mutation of the TGFBR2 gene in Marfan syndrome not associated with FBN1 gene defects. (PMID 16251899)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)