P150L (p.Pro150Leu) variant of PCSK1 (Neuroendocrine convertase 1)
P150L (p.Pro150Leu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
P150L (p.Pro150Leu) variant details
- p.Pro150Leu
- gnomAD rs1225474199
- Missense
- Variant Prioritization Score for Impact Estimate 0.722
- REVEL 0.69
- MetaLR 0.67
- MetaSVM 0.36
- CADD 29.80
- PolyPhen-2 0.92
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available