H32Y (p.His32Tyr) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
H32Y (p.His32Tyr) 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 0.29 / 1. The record also includes structural context.
H32Y (p.His32Tyr) variant details
- p.His32Tyr
- rs1305007186
- ClinGen CA411278851
- ClinVar RCV002300710
- TOPMed rs1305007186
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.76
- EVE 0.11
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available