V6A (p.Val6Ala) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
V6A (p.Val6Ala) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
V6A (p.Val6Ala) variant details
- p.Val6Ala
- gnomAD 22-31754938-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 23.80
- PolyPhen-2 0.02
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available