G59D (p.Gly59Asp) variant of PCSK1 (Neuroendocrine convertase 1)
G59D (p.Gly59Asp) 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.
G59D (p.Gly59Asp) variant details
- p.Gly59Asp
- ExAC rs769265374
- gnomAD rs769265374
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.31
- MetaLR 0.23
- MetaSVM -0.51
- CADD 24.10
- PolyPhen-2 0.10
- SIFT 0.15
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available