A19V (p.Ala19Val) variant of PIK3CB (P42338)
A19V (p.Ala19Val) in PIK3CB (P42338) is a missense change. Clinical records from ClinVar 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 0.62 / 1. The record also includes population frequency data.
A19V (p.Ala19Val) variant details
- p.Ala19Val
- cosmic curated COSV10000
- 1000Genomes rs148660928
- ExAC rs148660928
- TOPMed rs148660928
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 22.60
- PolyPhen-2 0.22
- SIFT 0.07
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:LWK population (allele frequency 0.0058)