S19T (p.Ser19Thr) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
S19T (p.Ser19Thr) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available record places it in the context of Epilepsy, familial focal, with variable foci 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes published literature and structural context.
S19T (p.Ser19Thr) variant details
- p.Ser19Thr
- rs886039275
- ClinGen CA10588019
- ClinVar RCV000254616
- Ensembl rs886039275
- not provided
- Epilepsy, familial focal, with variable foci 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.427
- AlphaMissense 0.13
- MetaLR 0.26
- MetaSVM -0.59
- PolyPhen-2 0.95
- SIFT 0.02
- EVE 0.57
- ClinVar: not provided (Epilepsy, familial focal, with variable foci 1)
- UniProt: Not provided
- Structural context available
- Cited in: DEPDC5-Related Epilepsy. (PMID 27683934)