R110C (p.Arg110Cys) variant of PCSK1 (Neuroendocrine convertase 1)
R110C (p.Arg110Cys) 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 0.74 / 1. The record also includes population frequency data and structural context.
R110C (p.Arg110Cys) variant details
- p.Arg110Cys
- ExAC rs774036542
- TOPMed rs774036542
- gnomAD rs774036542
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.742
- REVEL 0.70
- MetaLR 0.71
- MetaSVM 0.60
- CADD 29.10
- PolyPhen-2 1.00
- 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 9.9e-06)
- Structural context available