L132F (p.Leu132Phe) variant of PCSK1 (Neuroendocrine convertase 1)
L132F (p.Leu132Phe) 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.
L132F (p.Leu132Phe) variant details
- p.Leu132Phe
- ExAC rs763585508
- gnomAD rs763585508
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.79
- MetaLR 0.84
- MetaSVM 0.86
- CADD 32.00
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2e-06)
- Structural context available