G214S (p.Gly214Ser) variant of TGFBR1 (TGF-beta receptor type-1)
G214S (p.Gly214Ser) 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 Loeys-Dietz syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
G214S (p.Gly214Ser) variant details
- p.Gly214Ser
- rs727503470
- ClinGen CA374229530
- ClinVar RCV000578271
- Ensembl rs727503470
- Pathogenic/Likely pathogenic
- Loeys-Dietz syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.974
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.05
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.96
- ClinVar: Pathogenic/Likely pathogenic (Loeys-Dietz syndrome 1)
- EBI: Pathogenic
- UniProt: 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)