S43G (p.Ser43Gly) variant of PIK3CD (O00329)
S43G (p.Ser43Gly) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
S43G (p.Ser43Gly) variant details
- p.Ser43Gly
- gnomAD 1-9710582-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.14
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.36
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available