L15F (p.Leu15Phe) variant of PCSK1 (Neuroendocrine convertase 1)
L15F (p.Leu15Phe) in PCSK1 (Neuroendocrine convertase 1) is a missense change. 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.
L15F (p.Leu15Phe) variant details
- p.Leu15Phe
- gnomAD rs1425463282
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.08
- MetaLR 0.19
- MetaSVM -0.90
- CADD 17.50
- PolyPhen-2 0.00
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available