W130L (p.Trp130Leu) variant of PCSK1 (Neuroendocrine convertase 1)
W130L (p.Trp130Leu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data and structural context.
W130L (p.Trp130Leu) variant details
- p.Trp130Leu
- TOPMed rs1434467255
- gnomAD rs1434467255
- Missense
- Variant Prioritization Score for Impact Estimate 0.861
- REVEL 0.90
- MetaLR 0.82
- MetaSVM 0.83
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available