M73V (p.Met73Val) variant of PIK3CB (P42338)
M73V (p.Met73Val) 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 0.44 / 1. The record also includes population frequency data.
M73V (p.Met73Val) variant details
- p.Met73Val
- ExAC rs779251088
- TOPMed rs779251088
- gnomAD rs779251088
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- CADD 15.20
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)