P44A (p.Pro44Ala) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
P44A (p.Pro44Ala) 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 0.76 / 1. The record also includes population frequency data and structural context.
P44A (p.Pro44Ala) variant details
- p.Pro44Ala
- rs756878843
- ClinGen CA10195824
- ClinVar RCV000991880
- ClinVar RCV002234536
- Uncertain significance
- Familial focal epilepsy with variable foci; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- CADD 24.00
- PolyPhen-2 1.00
- SIFT 0.00
- 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 0.00022)
- Structural context available