Y82F (p.Tyr82Phe) variant of DEPDC5 (GATOR1 complex protein DEPDC5)
Y82F (p.Tyr82Phe) 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 0.61 / 1. The record also includes population frequency data and structural context.
Y82F (p.Tyr82Phe) variant details
- p.Tyr82Phe
- rs1417599681
- ClinGen CA411281449
- ClinVar RCV001755217
- gnomAD rs1417599681
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- CADD 23.70
- PolyPhen-2 0.28
- SIFT 0.28
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available