M137L (p.Met137Leu) variant of PCSK1 (Neuroendocrine convertase 1)
M137L (p.Met137Leu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M137L (p.Met137Leu) variant details
- p.Met137Leu
- ESP rs372023054
- TOPMed rs372023054
- gnomAD rs372023054
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.12
- MetaLR 0.30
- MetaSVM -0.58
- CADD 21.60
- PolyPhen-2 0.01
- SIFT 0.27
- Population evidence available
- Structural context available