S241L (p.Ser241Leu) variant of TGFBR1 (TGF-beta receptor type-1)
S241L (p.Ser241Leu) 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 Marfan syndrome; Loeys-Dietz syndrome 1; Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
S241L (p.Ser241Leu) variant details
- p.Ser241Leu
- rs111854391
- ClinGen CA008855
- NCI-TCGA Cosmic COSV6662
- cosmic curated COSV66624
- Pathogenic/Likely pathogenic
- Marfan syndrome; Loeys-Dietz syndrome 1; Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.809
- REVEL 0.81
- CADD 27.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Marfan syndrome; Loeys-Dietz syndrome 1; Cardiovascular phenotyp)
- EBI: Pathogenic (in LDS1)
- UniProt: Pathogenic (in LDS1)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited. (PMID 16596670)
- Cited in: Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. (PMID 16791849)