I73M (p.Ile73Met) variant of PIK3CD (O00329)
I73M (p.Ile73Met) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
I73M (p.Ile73Met) variant details
- p.Ile73Met
- gnomAD 1-9715618-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.48
- MetaLR 0.54
- MetaSVM 0.08
- CADD 23.50
- PolyPhen-2 0.65
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available