R38C (p.Arg38Cys) variant of PIK3CD (O00329)
R38C (p.Arg38Cys) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Immunodeficiency 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R38C (p.Arg38Cys) variant details
- p.Arg38Cys
- rs765729544
- ClinGen CA576774
- ClinVar RCV000814653
- ClinVar RCV002534844
- Likely benign
- Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.24
- AlphaMissense 0.08
- MetaLR 0.21
- MetaSVM -0.83
- CADD 21.70
- PolyPhen-2 0.07
- ClinVar: Likely benign (Immunodeficiency 14)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00029)
- 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)