Y7H (p.Tyr7His) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Y7H (p.Tyr7His) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Y7H (p.Tyr7His) variant details
- p.Tyr7His
- gnomAD rs2075191658
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 29.50
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available