D13G (p.Asp13Gly) variant of PIK3CB (P42338)
D13G (p.Asp13Gly) 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 0.60 / 1. The record also includes population frequency data.
D13G (p.Asp13Gly) variant details
- p.Asp13Gly
- rs752021744
- ClinGen CA2639656
- ClinVar RCV004168718
- ExAC rs752021744
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- CADD 22.40
- PolyPhen-2 0.01
- SIFT 0.67
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)