N88Y (p.Asn88Tyr) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
N88Y (p.Asn88Tyr) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
N88Y (p.Asn88Tyr) variant details
- p.Asn88Tyr
- gnomAD 22-31765043-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 26.80
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available