D93E (p.Asp93Glu) variant of PCSK1 (Neuroendocrine convertase 1)
D93E (p.Asp93Glu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D93E (p.Asp93Glu) variant details
- p.Asp93Glu
- ExAC rs762255140
- gnomAD rs762255140
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.15
- MetaLR 0.08
- MetaSVM -1.06
- CADD 22.20
- PolyPhen-2 0.82
- SIFT 0.08
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available