L22M (p.Leu22Met) variant of PCSK1 (Neuroendocrine convertase 1)
L22M (p.Leu22Met) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
L22M (p.Leu22Met) variant details
- p.Leu22Met
- Ensembl rs901957088
- Missense
- Variant Prioritization Score for Impact Estimate 0.0819
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -1.08
- CADD 0.27
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available