P92S (p.Pro92Ser) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
P92S (p.Pro92Ser) 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 0.76 / 1. The record also includes population frequency data and structural context.
P92S (p.Pro92Ser) variant details
- p.Pro92Ser
- rs774294197
- ClinGen CA411282001
- ClinVar RCV000997903
- ExAC rs774294197
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 24.60
- PolyPhen-2 0.61
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available