W98R (p.Trp98Arg) variant of PCSK1 (Neuroendocrine convertase 1)
W98R (p.Trp98Arg) 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 0.59 / 1. The record also includes population frequency data and structural context.
W98R (p.Trp98Arg) variant details
- p.Trp98Arg
- rs1246742230
- ClinGen CA360484831
- ClinVar RCV003405981
- TOPMed rs1246742230
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.63
- MetaLR 0.26
- MetaSVM -0.49
- CADD 28.20
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (PCSK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available