K26E (p.Lys26Glu) variant of PCSK1 (Neuroendocrine convertase 1)
K26E (p.Lys26Glu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
K26E (p.Lys26Glu) variant details
- p.Lys26Glu
- ExAC rs763973412
- TOPMed rs763973412
- gnomAD rs763973412
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.07
- MetaLR 0.13
- MetaSVM -0.99
- CADD 9.23
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available