L6P (p.Leu6Pro) variant of TGFB2 (P61812)
L6P (p.Leu6Pro) in TGFB2 (P61812) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Loeys-Dietz syndrome 4. The record also includes published literature and structural context.
L6P (p.Leu6Pro) variant details
- p.Leu6Pro
- rs1553292060
- ClinGen CA344725105
- ClinVar RCV001824352
- ClinVar RCV004817834
- Uncertain significance
- not provided; Loeys-Dietz syndrome 4
- Missense
- ClinVar: Uncertain significance (not provided; Loeys-Dietz syndrome 4)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)