S47L (p.Ser47Leu) variant of PCSK1 (Neuroendocrine convertase 1)
S47L (p.Ser47Leu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
S47L (p.Ser47Leu) variant details
- p.Ser47Leu
- TOPMed rs1429574639
- gnomAD rs1429574639
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.02
- MetaLR 0.03
- MetaSVM -1.03
- CADD 14.90
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available