R78L (p.Arg78Leu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
R78L (p.Arg78Leu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
R78L (p.Arg78Leu) variant details
- p.Arg78Leu
- gnomAD 22-31765014-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- CADD 26.00
- PolyPhen-2 0.13
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available