L32V (p.Leu32Val) variant of PIK3CD (O00329)
L32V (p.Leu32Val) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar 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 0.41 / 1. The record also includes population frequency data and structural context.
L32V (p.Leu32Val) variant details
- p.Leu32Val
- gnomAD rs1046472589
- Uncertain significance
- Immunodeficiency 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.18
- CADD 14.30
- PolyPhen-2 0.26
- SIFT 0.13
- ClinVar: Uncertain significance (Immunodeficiency 14)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available