N70S (p.Asn70Ser) variant of PIK3CB (P42338)
N70S (p.Asn70Ser) 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 0.47 / 1. The record also includes population frequency data.
N70S (p.Asn70Ser) variant details
- p.Asn70Ser
- ESP rs370600009
- TOPMed rs370600009
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.67
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)