S24N (p.Ser24Asn) variant of PCSK1 (Neuroendocrine convertase 1)
S24N (p.Ser24Asn) 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 Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
S24N (p.Ser24Asn) variant details
- p.Ser24Asn
- rs1183154024
- ClinGen CA360486202
- ClinVar RCV004500853
- TOPMed rs1183154024
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.169
- REVEL 0.11
- MetaLR 0.17
- MetaSVM -0.83
- CADD 8.94
- PolyPhen-2 0.00
- SIFT 0.45
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)