D266G (p.Asp266Gly) variant of TGFBR1 (TGF-beta receptor type-1)
D266G (p.Asp266Gly) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Loeys-Dietz syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes published literature and structural context.
D266G (p.Asp266Gly) variant details
- p.Asp266Gly
- rs863223819
- ClinGen CA322019
- ClinVar RCV000197559
- ClinVar RCV003147394
- Pathogenic/Likely pathogenic
- not provided; Loeys-Dietz syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.89
- AlphaMissense 1.00
- MetaLR 0.87
- MetaSVM 0.88
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (not provided; Loeys-Dietz syndrome 1)
- EBI: Pathogenic (in LDS1)
- UniProt: Pathogenic (in LDS1)
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: Clinical utility gene card for: Loeys-Dietz syndrome (TGFBR1/2) and related phenotypes. (PMID 21522183)