P2T (p.Pro2Thr) variant of PIK3CD (O00329)
P2T (p.Pro2Thr) in PIK3CD (O00329) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
P2T (p.Pro2Thr) variant details
- p.Pro2Thr
- rs541082914
- ClinGen CA576757
- ClinVar RCV001475518
- 1000Genomes rs541082914
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.17
- CADD 23.60
- PolyPhen-2 0.61
- SIFT 0.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:PATHAN population (allele frequency 0.021)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)