V92M (p.Val92Met) variant of PIK3CD (O00329)
V92M (p.Val92Met) in PIK3CD (O00329) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
V92M (p.Val92Met) variant details
- p.Val92Met
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10073
- Ensembl rs1647293076
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- REVEL 0.53
- CADD 24.10
- PolyPhen-2 0.85
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available