S68N (p.Ser68Asn) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
S68N (p.Ser68Asn) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
S68N (p.Ser68Asn) variant details
- p.Ser68Asn
- ESP rs369740612
- TOPMed rs369740612
- gnomAD rs369740612
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.682
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available