E51K (p.Glu51Lys) variant of PCSK1 (Neuroendocrine convertase 1)
E51K (p.Glu51Lys) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E51K (p.Glu51Lys) variant details
- p.Glu51Lys
- ExAC rs761877336
- TOPMed rs761877336
- gnomAD rs761877336
- Missense
- Variant Prioritization Score for Impact Estimate 0.158
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.09
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.85
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available