V20I (p.Val20Ile) variant of PIK3CD (O00329)
V20I (p.Val20Ile) 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 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
V20I (p.Val20Ile) variant details
- p.Val20Ile
- rs143116020
- ClinGen CA576768
- cosmic curated COSV63127
- ClinVar RCV001904388
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.11
- CADD 17.70
- PolyPhen-2 0.01
- SIFT 0.88
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:TU population (allele frequency 0.05)
- Structural context available
- Cited in: Activated PI3K Delta Syndrome. (PMID 39899769)