D46V (p.Asp46Val) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
D46V (p.Asp46Val) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D46V (p.Asp46Val) variant details
- p.Asp46Val
- rs769208150
- ClinGen CA10195827
- ClinVar RCV002585395
- ClinVar RCV003883881
- Uncertain significance
- Familial focal epilepsy with variable foci; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- CADD 24.80
- PolyPhen-2 0.96
- SIFT 0.06
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available