V10I (p.Val10Ile) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
V10I (p.Val10Ile) 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 not provided; Familial focal epilepsy with variable foci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
V10I (p.Val10Ile) variant details
- p.Val10Ile
- rs375027042
- ClinGen CA10195783
- ClinVar RCV000480624
- ClinVar RCV000555417
- Uncertain significance
- not provided; Familial focal epilepsy with variable foci
- Missense
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 23.40
- PolyPhen-2 0.65
- SIFT 0.66
- ClinVar: Uncertain significance (not provided; Familial focal epilepsy with variable foci)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available