P31L (p.Pro31Leu) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
P31L (p.Pro31Leu) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- TOPMed rs1435688202
- gnomAD rs1435688202
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available