P43Q (p.Pro43Gln) variant of PCSK1 (Neuroendocrine convertase 1)
P43Q (p.Pro43Gln) in PCSK1 (Neuroendocrine convertase 1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
P43Q (p.Pro43Gln) variant details
- p.Pro43Gln
- TOPMed rs1463744667
- gnomAD rs1463744667
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.03
- CADD 15.90
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available