V6I (p.Val6Ile) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
V6I (p.Val6Ile) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
V6I (p.Val6Ile) variant details
- p.Val6Ile
- gnomAD rs2075191238
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.729
- CADD 23.20
- PolyPhen-2 0.14
- SIFT 0.33
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available