H67Y (p.His67Tyr) variant of PCSK1 (Neuroendocrine convertase 1)
H67Y (p.His67Tyr) in PCSK1 (Neuroendocrine convertase 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H67Y (p.His67Tyr) variant details
- p.His67Tyr
- Ensembl rs1761415933
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.11
- MetaLR 0.04
- MetaSVM -1.09
- CADD 18.70
- PolyPhen-2 0.09
- SIFT 0.37
- Population evidence available
- Structural context available