A45E (p.Ala45Glu) variant of PCSK1 (Neuroendocrine convertase 1)
A45E (p.Ala45Glu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
A45E (p.Ala45Glu) variant details
- p.Ala45Glu
- ExAC rs750350434
- TOPMed rs750350434
- gnomAD rs750350434
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.06
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available