L141V (p.Leu141Val) variant of PCSK1 (Neuroendocrine convertase 1)
L141V (p.Leu141Val) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L141V (p.Leu141Val) variant details
- p.Leu141Val
- 1000Genomes rs563418997
- ExAC rs563418997
- gnomAD rs563418997
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.24
- MetaLR 0.30
- MetaSVM -0.65
- CADD 22.60
- SIFT 0.07
- Population evidence available
- Structural context available