R78P (p.Arg78Pro) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
R78P (p.Arg78Pro) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Familial focal epilepsy with variable foci; not provide. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R78P (p.Arg78Pro) variant details
- p.Arg78Pro
- rs373578854
- ClinGen CA10195880
- ClinVar RCV000642489
- ClinVar RCV002449018
- Conflicting interpretations
- Inborn genetic diseases; Familial focal epilepsy with variable foci; not provide
- Missense
- Variant Prioritization Score for Impact Estimate 0.647
- CADD 24.80
- PolyPhen-2 0.29
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Familial focal epilepsy with variable f)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 0.00016)
- 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)