L90S (p.Leu90Ser) variant of PCSK1 (Neuroendocrine convertase 1)
L90S (p.Leu90Ser) in PCSK1 (Neuroendocrine convertase 1) 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 0.68 / 1. The record also includes population frequency data and structural context.
L90S (p.Leu90Ser) variant details
- p.Leu90Ser
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10022
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.677
- REVEL 0.75
- MetaLR 0.50
- MetaSVM 0.21
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available