R19L (p.Arg19Leu) variant of TGFBR2 (TGF-beta receptor type-2)
R19L (p.Arg19Leu) in TGFBR2 (TGF-beta receptor type-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 2; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- rs763085648
- ClinGen CA049291
- ClinVar RCV001757847
- ClinVar RCV004008984
- Uncertain significance
- Loeys-Dietz syndrome 2; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.456
- REVEL 0.42
- CADD 22.50
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 2; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)