Q9H (p.Gln9His) variant of PCSK1 (Neuroendocrine convertase 1)
Q9H (p.Gln9His) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q9H (p.Gln9His) variant details
- p.Gln9His
- gnomAD rs1406896295
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.11
- MetaLR 0.18
- MetaSVM -0.89
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.56
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available