N127I (p.Asn127Ile) variant of PCSK1 (Neuroendocrine convertase 1)
N127I (p.Asn127Ile) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of PCSK1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
N127I (p.Asn127Ile) variant details
- p.Asn127Ile
- rs574780528
- ClinGen CA3350508
- ClinVar RCV003901650
- 1000Genomes rs574780528
- Likely benign
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.43
- MetaLR 0.40
- MetaSVM -0.41
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.04
- ClinVar: Likely benign (PCSK1-related disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available