C53T (p.Cys53Thr) variant of TULP1 (Tubby-related protein 1)
C53T (p.Cys53Thr) in TULP1 (Tubby-related protein 1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
C53T (p.Cys53Thr) variant details
- p.Cys53Thr
- rs2533813670
- ClinGen CA363785501
- ClinVar RCV002953758
- NCI-TCGA TCGA novel
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available