P40L (p.Pro40Leu) variant of PCSK1 (Neuroendocrine convertase 1)
P40L (p.Pro40Leu) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
P40L (p.Pro40Leu) variant details
- p.Pro40Leu
- ExAC rs752976241
- gnomAD rs752976241
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -1.00
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available