P31A (p.Pro31Ala) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
P31A (p.Pro31Ala) 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.
P31A (p.Pro31Ala) variant details
- p.Pro31Ala
- gnomAD 22-31758578-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available