F70L (p.Phe70Leu) variant of PCSK1 (Neuroendocrine convertase 1)
F70L (p.Phe70Leu) 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 0.20 / 1. The record also includes population frequency data and structural context.
F70L (p.Phe70Leu) variant details
- p.Phe70Leu
- NCI-TCGA Cosmic COSV6073
- cosmic curated COSV60736
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.2
- REVEL 0.13
- MetaLR 0.12
- MetaSVM -1.02
- CADD 18.70
- PolyPhen-2 0.00
- SIFT 0.57
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available