Y7C (p.Tyr7Cys) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Y7C (p.Tyr7Cys) 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 Inborn genetic diseases; Familial focal epilepsy with variable foci. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Y7C (p.Tyr7Cys) variant details
- p.Tyr7Cys
- rs748813142
- ClinGen CA10195780
- ClinVar RCV002232303
- ClinVar RCV002528406
- Uncertain significance
- Inborn genetic diseases; Familial focal epilepsy with variable foci
- Missense
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 28.60
- PolyPhen-2 0.99
- SIFT 0.09
- ClinVar: Uncertain significance (Inborn genetic diseases; Familial focal epilepsy with variable f)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00038)
- 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)