A39V (p.Ala39Val) variant of TGFB2 (P61812)
A39V (p.Ala39Val) 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.
A39V (p.Ala39Val) variant details
- p.Ala39Val
- rs2102527478
- ClinGen CA344725324
- ClinVar RCV001983867
- Ensembl rs2102527478
- 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)