H43Y (p.His43Tyr) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
H43Y (p.His43Tyr) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
H43Y (p.His43Tyr) variant details
- p.His43Tyr
- ESP rs375173943
- ExAC rs375173943
- TOPMed rs375173943
- gnomAD rs375173943
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- CADD 24.80
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available