L9P (p.Leu9Pro) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
L9P (p.Leu9Pro) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L9P (p.Leu9Pro) variant details
- p.Leu9Pro
- gnomAD 22-31754947-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.665
- CADD 29.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available