P124L (p.Pro124Leu) variant of PCSK1 (Neuroendocrine convertase 1)
P124L (p.Pro124Leu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
P124L (p.Pro124Leu) variant details
- p.Pro124Leu
- Ensembl rs1561376921
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- REVEL 0.84
- MetaLR 0.77
- MetaSVM 0.72
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available