I20F (p.Ile20Phe) variant of TGFBR2 (TGF-beta receptor type-2)
I20F (p.Ile20Phe) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
I20F (p.Ile20Phe) variant details
- p.Ile20Phe
- rs1697933766
- ClinGen CA351830569
- ClinVar RCV004016585
- Uncertain significance
- Loeys-Dietz syndrome 2
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.15
- CADD 23.60
- PolyPhen-2 0.02
- SIFT 0.51
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 2)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)