C20Y (p.Cys20Tyr) variant of PCSK1 (Neuroendocrine convertase 1)
C20Y (p.Cys20Tyr) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
C20Y (p.Cys20Tyr) variant details
- p.Cys20Tyr
- TOPMed rs1761556331
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.10
- MetaLR 0.20
- MetaSVM -0.81
- CADD 22.70
- PolyPhen-2 0.02
- SIFT 0.39
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available