A48G (p.Ala48Gly) variant of PIK3R1 (P27986)
A48G (p.Ala48Gly) in PIK3R1 (P27986) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A48G (p.Ala48Gly) variant details
- p.Ala48Gly
- TOPMed rs1361328385
- gnomAD rs1361328385
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.08
- CADD 23.40
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available