V98I (p.Val98Ile) variant of PIK3CD (O00329)
V98I (p.Val98Ile) in PIK3CD (O00329) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V98I (p.Val98Ile) variant details
- p.Val98Ile
- rs150205370
- ClinGen CA576823
- cosmic curated COSV63127
- ClinVar RCV003151599
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.09
- CADD 21.90
- PolyPhen-2 0.05
- SIFT 0.18
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available