D21V (p.Asp21Val) variant of PIK3R1 (P27986)
D21V (p.Asp21Val) 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; Immunodeficiency 36 with lymphoproliferation; Agammaglobulinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
D21V (p.Asp21Val) variant details
- p.Asp21Val
- rs2111963818
- ClinGen CA359979486
- ClinVar RCV001769296
- ClinVar RCV006557679
- Uncertain significance
- SHORT syndrome; Immunodeficiency 36 with lymphoproliferation; Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.61
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (SHORT syndrome; Immunodeficiency 36 with lymphoproliferation; Ag)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: PIK3R1-Related SHORT Syndrome. (PMID 24830046)