I38S (p.Ile38Ser) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
I38S (p.Ile38Ser) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
I38S (p.Ile38Ser) variant details
- p.Ile38Ser
- gnomAD 22-31758600-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 26.40
- PolyPhen-2 0.18
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available