Y86C (p.Tyr86Cys) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Y86C (p.Tyr86Cys) 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 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
Y86C (p.Tyr86Cys) variant details
- p.Tyr86Cys
- rs377039864
- ClinGen CA10195885
- ClinVar RCV001211383
- ClinVar RCV003284052
- Uncertain significance
- Inborn genetic diseases; Familial focal epilepsy with variable foci
- Missense
- Variant Prioritization Score for Impact Estimate 0.59
- CADD 24.00
- PolyPhen-2 0.00
- SIFT 0.02
- 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 7.6e-05)
- 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)