K154N (p.Lys154Asn) variant of PCSK1 (Neuroendocrine convertase 1)
K154N (p.Lys154Asn) 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 0.28 / 1. The record also includes population frequency data and structural context.
K154N (p.Lys154Asn) variant details
- p.Lys154Asn
- ESP rs145659863
- ExAC rs145659863
- TOPMed rs145659863
- gnomAD rs145659863
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.22
- MetaLR 0.37
- MetaSVM -0.50
- CADD 20.30
- PolyPhen-2 0.20
- SIFT 0.05
- ClinVar: Uncertain significance (PCSK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available