G24V (p.Gly24Val) variant of LDLR (Low-density lipoprotein receptor)
G24V (p.Gly24Val) in LDLR (Low-density lipoprotein receptor) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G24V (p.Gly24Val) variant details
- p.Gly24Val
- rs1442411392
- gnomAD rs1442411392
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- CADD 5.91
- PolyPhen-2 0.01
- SIFT 0.24
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available