L23del (p.Leu23del) variant of PCSK9 (Proprotein convertase subtilisin/kexin type 9)
L23del (p.Leu23del) in PCSK9 (Proprotein convertase subtilisin/kexin type 9) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
L23del (p.Leu23del) variant details
- rs1453893690
- gnomAD 1-55039878-CACT-C
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.133
- CADD 7.46
- Most common in the HGDP:PATHAN population (allele frequency 0.14)
- Structural context available
- Literature evidence available