L64V (p.Leu64Val) variant of PCSK1 (Neuroendocrine convertase 1)
L64V (p.Leu64Val) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L64V (p.Leu64Val) variant details
- p.Leu64Val
- Ensembl rs1761416162
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.23
- MetaLR 0.17
- MetaSVM -0.63
- CADD 24.90
- PolyPhen-2 0.47
- SIFT 0.02
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available