N122S (p.Asn122Ser) variant of PCSK1 (Neuroendocrine convertase 1)
N122S (p.Asn122Ser) 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 0.48 / 1. The record also includes population frequency data and structural context.
N122S (p.Asn122Ser) variant details
- p.Asn122Ser
- rs1237338413
- ClinGen CA360484665
- ClinVar RCV003414398
- TOPMed rs1237338413
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.42
- MetaLR 0.42
- MetaSVM -0.15
- CADD 23.30
- PolyPhen-2 0.29
- SIFT 0.11
- ClinVar: Uncertain significance (PCSK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available