N57S (p.Asn57Ser) variant of PIK3R1 (P27986)
N57S (p.Asn57Ser) 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; Immunodeficiency 36 with lymphoprolif. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes published literature and structural context.
N57S (p.Asn57Ser) variant details
- p.Asn57Ser
- rs1580173662
- ClinGen CA359979730
- ClinVar RCV000818495
- Ensembl rs1580173662
- Uncertain significance
- Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 with lymphoprolif
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- AlphaMissense 0.06
- MetaLR 0.01
- MetaSVM -0.95
- PolyPhen-2 0.00
- SIFT 0.96
- EVE 0.07
- ClinVar: Uncertain significance (Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 w)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: PIK3R1-Related SHORT Syndrome. (PMID 24830046)