G155D (p.Gly155Asp) variant of PCSK1 (Neuroendocrine convertase 1)
G155D (p.Gly155Asp) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data and structural context.
G155D (p.Gly155Asp) variant details
- p.Gly155Asp
- gnomAD rs1363728113
- Missense
- Variant Prioritization Score for Impact Estimate 0.84
- REVEL 0.88
- MetaLR 0.79
- MetaSVM 0.71
- CADD 25.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available