P92R (p.Pro92Arg) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
P92R (p.Pro92Arg) 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 Familial focal epilepsy with variable foci; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes structural context.
P92R (p.Pro92Arg) variant details
- p.Pro92Arg
- rs977089582
- ClinGen CA411282008
- ClinVar RCV003761038
- ClinVar RCV004820305
- Uncertain significance
- Familial focal epilepsy with variable foci; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.439
- AlphaMissense 0.39
- MetaLR 0.21
- MetaSVM -0.73
- PolyPhen-2 0.86
- SIFT 0.00
- EVE 0.58
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available