V96A (p.Val96Ala) variant of PCSK1 (Neuroendocrine convertase 1)
V96A (p.Val96Ala) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
V96A (p.Val96Ala) variant details
- p.Val96Ala
- ExAC rs763461063
- TOPMed rs763461063
- gnomAD rs763461063
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.66
- MetaLR 0.44
- MetaSVM 0.09
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available