D93G (p.Asp93Gly) variant of PCSK1 (Neuroendocrine convertase 1)
D93G (p.Asp93Gly) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
D93G (p.Asp93Gly) variant details
- p.Asp93Gly
- gnomAD rs1475015594
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.38
- MetaLR 0.14
- MetaSVM -0.76
- CADD 24.30
- PolyPhen-2 0.18
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 6.9e-06)
- Structural context available