V29A (p.Val29Ala) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
V29A (p.Val29Ala) 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 and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- TOPMed rs1157334235
- gnomAD rs1157334235
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- CADD 24.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available