R78S (p.Arg78Ser) variant of PCSK1 (Neuroendocrine convertase 1)
R78S (p.Arg78Ser) 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 0.33 / 1. The record also includes population frequency data and structural context.
R78S (p.Arg78Ser) variant details
- p.Arg78Ser
- ESP rs148354360
- ExAC rs148354360
- TOPMed rs148354360
- gnomAD rs148354360
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.31
- MetaLR 0.22
- MetaSVM -0.61
- CADD 23.30
- PolyPhen-2 0.79
- SIFT 0.01
- ClinVar: Uncertain significance (PCSK1-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available