G24A (p.Gly24Ala) variant of LDLR (Low-density lipoprotein receptor)
G24A (p.Gly24Ala) in LDLR (Low-density lipoprotein receptor) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
G24A (p.Gly24Ala) variant details
- p.Gly24Ala
- gnomAD 19-11100223-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.176
- CADD 13.40
- Population evidence available
- Structural context available
- Literature evidence available