L27I (p.Leu27Ile) variant of TGFB2 (P61812)
L27I (p.Leu27Ile) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Loeys-Dietz syndrome 4. The record also includes published literature and structural context.
L27I (p.Leu27Ile) variant details
- p.Leu27Ile
- rs1209272897
- ClinGen CA344725230
- ClinVar RCV002595233
- Uncertain significance
- Loeys-Dietz syndrome 4
- Missense
- ClinVar: Uncertain significance (Loeys-Dietz syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)