Q31H (p.Gln31His) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
Q31H (p.Gln31His) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
Q31H (p.Gln31His) variant details
- p.Gln31His
- rs1344705474
- gnomAD 1-55039925-G-GCGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.744
- CADD 22.80
- Most common in the HGDP:BRAHUI population (allele frequency 0.065)
- Structural context available
- Literature evidence available