R88C (p.Arg88Cys) variant of PIK3CD (O00329)
R88C (p.Arg88Cys) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Immunodeficiency 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
R88C (p.Arg88Cys) variant details
- p.Arg88Cys
- rs1557659540
- ClinGen CA338300219
- NCI-TCGA Cosmic COSV6312
- cosmic curated COSV63127
- Uncertain significance
- Inborn genetic diseases; Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.63
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Uncertain significance (Inborn genetic diseases; Immunodeficiency 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)