G54S (p.Gly54Ser) variant of PCSK1 (Neuroendocrine convertase 1)
G54S (p.Gly54Ser) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
G54S (p.Gly54Ser) variant details
- p.Gly54Ser
- TOPMed rs1761551471
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.34
- MetaLR 0.32
- MetaSVM -0.30
- CADD 26.70
- PolyPhen-2 0.63
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available