C10R (p.Cys10Arg) variant of PCSK1 (Neuroendocrine convertase 1)
C10R (p.Cys10Arg) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
C10R (p.Cys10Arg) variant details
- p.Cys10Arg
- ExAC rs761736517
- TOPMed rs761736517
- gnomAD rs761736517
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.21
- MetaLR 0.14
- MetaSVM -1.09
- CADD 11.70
- PolyPhen-2 0.02
- SIFT 0.01
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available