A53A (p.Ala53Ala) variant of PIK3CD (O00329)
A53A (p.Ala53Ala) in PIK3CD (O00329) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
A53A (p.Ala53Ala) variant details
- p.Ala53Ala
- gnomAD 1-9715558-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.148
- CADD 9.44
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available