W277R (p.Trp277Arg) variant of TGFBR1 (TGF-beta receptor type-1)
W277R (p.Trp277Arg) in TGFBR1 (TGF-beta receptor type-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Loeys-Dietz syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
W277R (p.Trp277Arg) variant details
- p.Trp277Arg
- rs1827647083
- ClinGen CA374230533
- NCI-TCGA Cosmic COSV1008
- cosmic curated COSV10089
- Likely pathogenic
- Loeys-Dietz syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.924
- AlphaMissense 1.00
- MetaLR 0.90
- MetaSVM 1.01
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Loeys-Dietz syndrome 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)