I38T (p.Ile38Thr) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
I38T (p.Ile38Thr) 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; Epilepsy, familial focal, with varia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes published literature and structural context.
I38T (p.Ile38Thr) variant details
- p.Ile38Thr
- rs1023389808
- ClinGen CA323318196
- ClinVar RCV003110368
- ClinVar RCV003340660
- Uncertain significance
- Familial focal epilepsy with variable foci; Epilepsy, familial focal, with varia
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- AlphaMissense 0.48
- MetaLR 0.12
- MetaSVM -0.95
- PolyPhen-2 0.14
- SIFT 0.00
- EVE 0.56
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci; Epilepsy, familial f)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: DEPDC5-Related Epilepsy. (PMID 27683934)