F31L (p.Phe31Leu) variant of PCSK1 (Neuroendocrine convertase 1)
F31L (p.Phe31Leu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
F31L (p.Phe31Leu) variant details
- p.Phe31Leu
- gnomAD rs1225423383
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.18
- MetaLR 0.10
- MetaSVM -1.02
- CADD 24.30
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available