D68N (p.Asp68Asn) variant of PIK3R1 (P27986)
D68N (p.Asp68Asn) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 w. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
D68N (p.Asp68Asn) variant details
- p.Asp68Asn
- rs755043940
- ClinGen CA3289945
- ClinVar RCV000545810
- ClinVar RCV005252957
- Uncertain significance
- Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 w
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.29
- CADD 28.10
- PolyPhen-2 0.99
- SIFT 0.06
- ClinVar: Uncertain significance (Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immun)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: PIK3R1-Related SHORT Syndrome. (PMID 24830046)