S91P (p.Ser91Pro) variant of PCSK1 (Neuroendocrine convertase 1)
S91P (p.Ser91Pro) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
S91P (p.Ser91Pro) variant details
- p.Ser91Pro
- TOPMed rs1431453437
- gnomAD rs1431453437
- Missense
- Variant Prioritization Score for Impact Estimate 0.246
- REVEL 0.17
- MetaLR 0.11
- MetaSVM -0.98
- CADD 24.40
- PolyPhen-2 0.45
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9.6e-07)
- Structural context available