P35R (p.Pro35Arg) variant of PIK3CD (O00329)
P35R (p.Pro35Arg) in PIK3CD (O00329) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- gnomAD rs1279930246
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.15
- CADD 22.30
- PolyPhen-2 0.40
- SIFT 0.17
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available