K93N (p.Lys93Asn) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
K93N (p.Lys93Asn) 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 0.72 / 1. The record also includes population frequency data and structural context.
K93N (p.Lys93Asn) variant details
- p.Lys93Asn
- rs2148104453
- ClinGen CA411282024
- ClinVar RCV002269570
- Ensembl rs2148104453
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- CADD 40.00
- PolyPhen-2 0.79
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available