P27R (p.Pro27Arg) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
P27R (p.Pro27Arg) in DEPDC5 (GATOR1 complex protein DEPDC5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
P27R (p.Pro27Arg) variant details
- p.Pro27Arg
- TOPMed rs1485949754
- gnomAD rs1485949754
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.619
- AlphaMissense 0.57
- MetaLR 0.23
- MetaSVM -0.72
- CADD 25.30
- PolyPhen-2 0.77
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available