V23M (p.Val23Met) variant of LDLR (Low-density lipoprotein receptor)
V23M (p.Val23Met) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
V23M (p.Val23Met) variant details
- p.Val23Met
- TOPMed rs1704517900
- Missense
- Variant Prioritization Score for Impact Estimate 0.716
- CADD 33.00
- PolyPhen-2 0.54
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available