E2K (p.Glu2Lys) variant of PCSK1 (Neuroendocrine convertase 1)
E2K (p.Glu2Lys) 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.
E2K (p.Glu2Lys) variant details
- p.Glu2Lys
- ExAC rs773338510
- gnomAD rs773338510
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.12
- MetaLR 0.18
- MetaSVM -0.97
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.33
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available