R80L (p.Arg80Leu) variant of PCSK1 (Neuroendocrine convertase 1)
R80L (p.Arg80Leu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
R80L (p.Arg80Leu) variant details
- p.Arg80Leu
- 1000Genomes rs1799904
- ExAC rs1799904
- TOPMed rs1799904
- gnomAD rs1799904
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.07
- MetaLR 0.07
- MetaSVM -1.11
- CADD 22.50
- PolyPhen-2 0.19
- SIFT 0.13
- EBI: Benign (in dbSNP:rs1799904)
- UniProt: Benign (in dbSNP:rs1799904)
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available