L141Q (p.Leu141Gln) variant of PCSK1 (Neuroendocrine convertase 1)
L141Q (p.Leu141Gln) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L141Q (p.Leu141Gln) variant details
- p.Leu141Gln
- gnomAD rs1486438351
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.39
- MetaLR 0.27
- MetaSVM -0.71
- CADD 24.60
- PolyPhen-2 0.62
- SIFT 0.05
- Population evidence available
- Structural context available