p.Ala13 Ala19del variant of LDLR (Low-density lipoprotein receptor)
p.Ala13 Ala19del in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala13 Ala19del variant details
- rs1469062460
- gnomAD 19-11089584-CGCCT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 19.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available