M125K (p.Met125Lys) variant of PCSK1 (Neuroendocrine convertase 1)
M125K (p.Met125Lys) 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 PCSK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
M125K (p.Met125Lys) variant details
- p.Met125Lys
- rs369663700
- ClinGen CA3350510
- ClinVar RCV003949364
- ESP rs369663700
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.48
- MetaLR 0.23
- MetaSVM -0.63
- CADD 22.00
- PolyPhen-2 0.07
- SIFT 0.27
- ClinVar: Uncertain significance (PCSK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available