P3L (p.Pro3Leu) variant of PIK3CD (O00329)
P3L (p.Pro3Leu) in PIK3CD (O00329) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
P3L (p.Pro3Leu) variant details
- p.Pro3Leu
- rs780051553
- ClinGen CA576761
- cosmic curated COSV63131
- ClinVar RCV001897857
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.51
- CADD 25.70
- PolyPhen-2 0.90
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)