R2K (p.Arg2Lys) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
R2K (p.Arg2Lys) 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; Inborn genetic diseases; not specifi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- rs756142773
- ClinGen CA10195778
- ClinVar RCV000459734
- ClinVar RCV001193557
- Conflicting interpretations
- Familial focal epilepsy with variable foci; Inborn genetic diseases; not specifi
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- CADD 18.50
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Conflicting classifications of pathogenicity (Familial focal epilepsy with variable foci; Inborn genetic disea)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- 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)