K5R (p.Lys5Arg) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
K5R (p.Lys5Arg) 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 Familial focal epilepsy with variable foci; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
K5R (p.Lys5Arg) variant details
- p.Lys5Arg
- rs372506941
- ClinGen CA10195779
- cosmic curated COSV56690
- ClinVar RCV003091358
- Uncertain significance
- Familial focal epilepsy with variable foci; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- CADD 22.80
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (Familial focal epilepsy with variable foci; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available