F13S (p.Phe13Ser) variant of PCSK1 (Neuroendocrine convertase 1)
F13S (p.Phe13Ser) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F13S (p.Phe13Ser) variant details
- p.Phe13Ser
- TOPMed rs1173701856
- gnomAD rs1173701856
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.23
- MetaLR 0.18
- MetaSVM -0.87
- CADD 23.70
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available