A49T (p.Ala49Thr) variant of VCL (Vinculin)
A49T (p.Ala49Thr) in VCL (Vinculin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The record also includes structural context.
A49T (p.Ala49Thr) variant details
- p.Ala49Thr
- rs2549180866
- ClinGen CA377255433
- ClinVar RCV002396701
- Uncertain significance
- Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available