D56H (p.Asp56His) variant of PCSK1 (Neuroendocrine convertase 1)
D56H (p.Asp56His) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
D56H (p.Asp56His) variant details
- p.Asp56His
- ExAC rs762502532
- gnomAD rs762502532
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.11
- CADD 23.20
- PolyPhen-2 0.37
- SIFT 0.10
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available