V5L (p.Val5Leu) variant of TGFB2 (P61812)
V5L (p.Val5Leu) 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.
V5L (p.Val5Leu) variant details
- p.Val5Leu
- rs1571820552
- ClinGen CA344725097
- ClinVar RCV001824377
- Ensembl rs1571820552
- 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)