E106K (p.Glu106Lys) variant of PCSK1 (Neuroendocrine convertase 1)
E106K (p.Glu106Lys) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
E106K (p.Glu106Lys) variant details
- p.Glu106Lys
- gnomAD rs1364933057
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.10
- MetaLR 0.07
- MetaSVM -1.02
- CADD 15.80
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available