W130S (p.Trp130Ser) variant of PCSK1 (Neuroendocrine convertase 1)
W130S (p.Trp130Ser) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
W130S (p.Trp130Ser) variant details
- p.Trp130Ser
- TOPMed rs1434467255
- gnomAD rs1434467255
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.88
- MetaLR 0.82
- MetaSVM 0.83
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available