A3A (p.Ala3Ala) variant of PIK3R1 (P27986)
A3A (p.Ala3Ala) in PIK3R1 (P27986) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
A3A (p.Ala3Ala) variant details
- p.Ala3Ala
- rs1447146494
- gnomAD 5-68226684-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.113
- CADD 4.58
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available