H32R (p.His32Arg) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
H32R (p.His32Arg) 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; Epilepsy, familial focal, with variable foci 1; Familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
H32R (p.His32Arg) variant details
- p.His32Arg
- rs760541660
- ClinGen CA10195815
- ClinVar RCV001349880
- ClinVar RCV002471091
- Uncertain significance
- Inborn genetic diseases; Epilepsy, familial focal, with variable foci 1; Familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.24
- ClinVar: Uncertain significance (Inborn genetic diseases; Epilepsy, familial focal, with variable)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- 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)