L354P (p.Leu354Pro) variant of TGFBR1 (TGF-beta receptor type-1)
L354P (p.Leu354Pro) 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 0.94 / 1. The record also includes published literature and structural context.
L354P (p.Leu354Pro) variant details
- p.Leu354Pro
- rs1554701914
- ClinGen CA374231501
- cosmic curated COSV66626
- ClinVar RCV000623721
- Likely pathogenic
- Loeys-Dietz syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.938
- AlphaMissense 1.00
- MetaLR 0.96
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.81
- 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)