V24G (p.Val24Gly) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
V24G (p.Val24Gly) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Familial focal epilepsy with variable foci; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
V24G (p.Val24Gly) variant details
- p.Val24Gly
- rs572660873
- ClinGen CA10195811
- ClinVar RCV000475980
- ClinVar RCV003925352
- Benign/Likely benign
- Familial focal epilepsy with variable foci; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- CADD 24.40
- PolyPhen-2 0.30
- SIFT 0.00
- ClinVar: Benign/Likely benign (Familial focal epilepsy with variable foci; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available