Q54R (p.Gln54Arg) variant of PIK3CD (O00329)
Q54R (p.Gln54Arg) in PIK3CD (O00329) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
Q54R (p.Gln54Arg) variant details
- p.Gln54Arg
- gnomAD 1-9715560-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.09
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.31
- Population evidence available
- Structural context available
- Literature evidence available