R78K (p.Arg78Lys) variant of PCSK1 (Neuroendocrine convertase 1)
R78K (p.Arg78Lys) 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 0.42 / 1. The record also includes population frequency data and structural context.
R78K (p.Arg78Lys) variant details
- p.Arg78Lys
- rs1761415135
- ClinGen CA360485250
- cosmic curated COSV60737
- ClinVar RCV003412255
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.422
- REVEL 0.25
- MetaLR 0.14
- MetaSVM -0.68
- CADD 23.40
- PolyPhen-2 0.18
- SIFT 0.05
- ClinVar: Uncertain significance (PCSK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available