N45K (p.Asn45Lys) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
N45K (p.Asn45Lys) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
N45K (p.Asn45Lys) variant details
- p.Asn45Lys
- ESP rs368243595
- ExAC rs368243595
- TOPMed rs368243595
- gnomAD rs368243595
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.0688
- CADD 1.83
- PolyPhen-2 0.13
- SIFT 0.16
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available