D6E (p.Asp6Glu) variant of PIK3CD (O00329)
D6E (p.Asp6Glu) 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 0.35 / 1. The record also includes population frequency data and structural context.
D6E (p.Asp6Glu) variant details
- p.Asp6Glu
- rs1037340766
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10074
- TOPMed rs1037340766
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- AlphaMissense 0.11
- MetaLR 0.09
- MetaSVM -1.06
- PolyPhen-2 0.35
- SIFT 0.52
- MutPred 0.29
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available