A10V (p.Ala10Val) variant of PIK3R1 (P27986)
A10V (p.Ala10Val) 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 0.57 / 1. The record also includes population frequency data, published literature, and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- rs767837787
- ClinGen CA3289922
- NCI-TCGA Cosmic COSV5712
- cosmic curated COSV57124
- Uncertain significance
- Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immunodeficiency 36 w
- Missense
- Variant Prioritization Score for Impact Estimate 0.572
- REVEL 0.41
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.04
- ClinVar: Uncertain significance (Agammaglobulinemia 7, autosomal recessive; SHORT syndrome; Immun)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TU population (allele frequency 0.05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: PIK3R1-Related SHORT Syndrome. (PMID 24830046)