T66S (p.Thr66Ser) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
T66S (p.Thr66Ser) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
T66S (p.Thr66Ser) variant details
- p.Thr66Ser
- rs1556523682
- ClinGen CA411281098
- ClinVar RCV000658938
- Ensembl rs1556523682
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- AlphaMissense 0.50
- MetaLR 0.12
- MetaSVM -1.03
- PolyPhen-2 0.54
- SIFT 0.18
- EVE 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available