I53V (p.Ile53Val) variant of PIK3R1 (P27986)
I53V (p.Ile53Val) in PIK3R1 (P27986) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 w. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
I53V (p.Ile53Val) variant details
- p.Ile53Val
- rs2530796951
- ClinGen CA359979698
- ClinVar RCV002797103
- Uncertain significance
- SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 w
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.12
- CADD 19.20
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immun)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: PIK3R1-Related SHORT Syndrome. (PMID 24830046)