R95C (p.Arg95Cys) variant of PCSK1 (Neuroendocrine convertase 1)
R95C (p.Arg95Cys) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
R95C (p.Arg95Cys) variant details
- p.Arg95Cys
- rs1439220661
- cosmic curated COSV10459
- TOPMed rs1439220661
- gnomAD rs1439220661
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.34
- MetaLR 0.19
- MetaSVM -0.65
- CADD 32.00
- PolyPhen-2 0.98
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available