L40P (p.Leu40Pro) variant of PIK3R1 (P27986)
L40P (p.Leu40Pro) 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 published literature and structural context.
L40P (p.Leu40Pro) variant details
- p.Leu40Pro
- rs2111964134
- ClinGen CA359979612
- ClinVar RCV001874136
- Ensembl rs2111964134
- Uncertain significance
- SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immunodeficiency 36 w
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- AlphaMissense 0.83
- MetaLR 0.06
- MetaSVM -1.21
- PolyPhen-2 1.00
- SIFT 0.06
- EVE 0.22
- ClinVar: Uncertain significance (SHORT syndrome; Agammaglobulinemia 7, autosomal recessive; Immun)
- 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)