H32D (p.His32Asp) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
H32D (p.His32Asp) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
H32D (p.His32Asp) variant details
- p.His32Asp
- TOPMed rs1305007186
- gnomAD rs1305007186
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.04
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.76
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available