A140V (p.Ala140Val) variant of PCSK1 (Neuroendocrine convertase 1)
A140V (p.Ala140Val) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A140V (p.Ala140Val) variant details
- p.Ala140Val
- ExAC rs754068131
- gnomAD rs754068131
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.08
- MetaLR 0.15
- MetaSVM -0.94
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.07
- Population evidence available
- Structural context available