I38M (p.Ile38Met) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
I38M (p.Ile38Met) 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; Inborn genetic diseases; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
I38M (p.Ile38Met) variant details
- p.Ile38Met
- rs566463688
- ClinGen CA10195819
- ClinVar RCV001370491
- ClinVar RCV001773730
- Uncertain significance
- Familial focal epilepsy with variable foci; Inborn genetic diseases; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 22.70
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci; Inborn genetic disea)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0087)
- 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)