L113I (p.Leu113Ile) variant of PCSK1 (Neuroendocrine convertase 1)
L113I (p.Leu113Ile) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
L113I (p.Leu113Ile) variant details
- p.Leu113Ile
- ExAC rs754742271
- TOPMed rs754742271
- gnomAD rs754742271
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.04
- MetaLR 0.12
- MetaSVM -1.03
- CADD 0.09
- SIFT 0.54
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available