E4Q (p.Glu4Gln) variant of PIK3R1 (P27986)
E4Q (p.Glu4Gln) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E4Q (p.Glu4Gln) variant details
- p.Glu4Gln
- ExAC rs762586316
- gnomAD rs762586316
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- REVEL 0.29
- CADD 25.80
- PolyPhen-2 0.53
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available