M125I (p.Met125Ile) variant of PCSK1 (Neuroendocrine convertase 1)
M125I (p.Met125Ile) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Obesity due to prohormone convertase I deficiency; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M125I (p.Met125Ile) variant details
- p.Met125Ile
- rs146545244
- 1000Genomes rs146545244
- ESP rs146545244
- ExAC rs146545244
- Uncertain significance
- Obesity due to prohormone convertase I deficiency; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.33
- MetaLR 0.34
- MetaSVM -0.58
- CADD 20.00
- PolyPhen-2 0.05
- SIFT 0.10
- ClinVar: Uncertain significance (Obesity due to prohormone convertase I deficiency; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available