F69L (p.Phe69Leu) variant of PIK3R1 (P27986)
F69L (p.Phe69Leu) 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 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
F69L (p.Phe69Leu) variant details
- p.Phe69Leu
- rs752891021
- ClinGen CA3289946
- ClinVar RCV003795818
- ClinVar RCV005629993
- Uncertain significance
- SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 w
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.41
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immun)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: PIK3R1-Related SHORT Syndrome. (PMID 24830046)