E100Q (p.Glu100Gln) variant of PCSK1 (Neuroendocrine convertase 1)
E100Q (p.Glu100Gln) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
E100Q (p.Glu100Gln) variant details
- p.Glu100Gln
- NCI-TCGA Cosmic COSV6073
- cosmic curated COSV60735
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.09
- MetaSVM -1.00
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available