P50R (p.Pro50Arg) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
P50R (p.Pro50Arg) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
P50R (p.Pro50Arg) variant details
- p.Pro50Arg
- gnomAD 22-31760658-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- CADD 22.20
- PolyPhen-2 0.20
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available