R95H (p.Arg95His) variant of PCSK1 (Neuroendocrine convertase 1)
R95H (p.Arg95His) 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 Obesity due to prohormone convertase I deficiency. 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.
R95H (p.Arg95His) variant details
- p.Arg95His
- rs769203665
- ClinGen CA3350543
- ClinVar RCV000364590
- ExAC rs769203665
- Uncertain significance
- Obesity due to prohormone convertase I deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.444
- REVEL 0.23
- MetaLR 0.17
- MetaSVM -0.90
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.04
- ClinVar: Uncertain significance (Obesity due to prohormone convertase I deficiency)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available