Y78C (p.Tyr78Cys) variant of PIK3CB (P42338)
Y78C (p.Tyr78Cys) in PIK3CB (P42338) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data.
Y78C (p.Tyr78Cys) variant details
- p.Tyr78Cys
- cosmic curated COSV56687
- TOPMed rs1351165932
- gnomAD rs1351165932
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)