D68H (p.Asp68His) variant of PIK3R1 (P27986)
D68H (p.Asp68His) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 36 with lymphoproliferation; Agammaglobulinemia 7, autosomal re. 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.
D68H (p.Asp68His) variant details
- p.Asp68His
- rs755043940
- ClinGen CA3289944
- ClinVar RCV001361547
- ClinVar RCV004952815
- Uncertain significance
- Immunodeficiency 36 with lymphoproliferation; Agammaglobulinemia 7, autosomal re
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.39
- CADD 27.00
- PolyPhen-2 0.77
- SIFT 0.02
- ClinVar: Uncertain significance (Immunodeficiency 36 with lymphoproliferation; Agammaglobulinemia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-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)