D46E (p.Asp46Glu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
D46E (p.Asp46Glu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Familial focal epilepsy with variable foci; Inborn genetic diseases; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
D46E (p.Asp46Glu) variant details
- p.Asp46Glu
- rs535630975
- ClinGen CA10195828
- ClinVar RCV001434051
- ClinVar RCV003960330
- Likely benign
- Familial focal epilepsy with variable foci; Inborn genetic diseases; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.369
- CADD 22.50
- PolyPhen-2 0.28
- SIFT 0.16
- ClinVar: Likely benign (Familial focal epilepsy with variable foci; Inborn genetic disea)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.0051)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)