D138H (p.Asp138His) variant of PIK3CB (P42338)
D138H (p.Asp138His) 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 0.78 / 1. The record also includes population frequency data.
D138H (p.Asp138His) variant details
- p.Asp138His
- rs373262346
- ClinGen CA2639582
- cosmic curated COSV56687
- ClinVar RCV004178178
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.779
- CADD 25.40
- PolyPhen-2 0.91
- 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 8.8e-05)