N88D (p.Asn88Asp) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
N88D (p.Asn88Asp) 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 Familial focal epilepsy with variable foci; not specified; Inborn genetic diseas. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N88D (p.Asn88Asp) variant details
- p.Asn88Asp
- rs144712084
- ClinGen CA10195888
- ClinVar RCV000525422
- ClinVar RCV001288148
- Conflicting interpretations
- Familial focal epilepsy with variable foci; not specified; Inborn genetic diseas
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 26.30
- PolyPhen-2 0.91
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Familial focal epilepsy with variable foci; not specified; Inbor)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:MOZABITE population (allele frequency 0.02)
- Structural context available
- Cited in: DEPDC5-Related Epilepsy. (PMID 27683934)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)