R110H (p.Arg110His) variant of PCSK1 (Neuroendocrine convertase 1)
R110H (p.Arg110His) 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 0.70 / 1. The record also includes population frequency data and structural context.
R110H (p.Arg110His) variant details
- p.Arg110His
- cosmic curated COSV60735
- ExAC rs748072514
- TOPMed rs748072514
- gnomAD rs748072514
- Uncertain significance
- PCSK1-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.704
- REVEL 0.67
- MetaLR 0.64
- MetaSVM 0.41
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- 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