A77V (p.Ala77Val) variant of PIK3CD (O00329)
A77V (p.Ala77Val) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Immunodeficiency 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
A77V (p.Ala77Val) variant details
- p.Ala77Val
- rs1570356857
- ClinGen CA338300144
- cosmic curated COSV63128
- ClinVar RCV003070557
- Uncertain significance
- Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.58
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Immunodeficiency 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.021)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)