H67Q (p.His67Gln) variant of PCSK1 (Neuroendocrine convertase 1)
H67Q (p.His67Gln) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
H67Q (p.His67Gln) variant details
- p.His67Gln
- Ensembl rs1761415856
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.34
- MetaLR 0.18
- MetaSVM -0.73
- CADD 23.60
- PolyPhen-2 0.85
- SIFT 0.06
- Population evidence available
- Structural context available