G839V (p.Gly839Val) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
G839V (p.Gly839Val) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Epilepsy, familial focal, with variable foci 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes published literature.
G839V (p.Gly839Val) variant details
- p.Gly839Val
- rs1602349641
- ClinGen CA411288209
- ClinVar RCV000990424
- Ensembl rs1602349641
- Likely pathogenic
- Epilepsy, familial focal, with variable foci 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- AlphaMissense 0.71
- MetaLR 0.10
- MetaSVM -1.15
- PolyPhen-2 1.00
- SIFT 0.20
- ClinVar: Likely pathogenic (Epilepsy, familial focal, with variable foci 1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: DEPDC5-Related Epilepsy. (PMID 27683934)