G24D (p.Gly24Asp) variant of LDLR (Low-density lipoprotein receptor)
G24D (p.Gly24Asp) in LDLR (Low-density lipoprotein receptor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- gnomAD 19-11100226-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- MetaLR 0.46
- MetaSVM -0.45
- CADD 5.40
- PolyPhen-2 0.09
- SIFT 0.47
- Most common in the HGDP:BIAKA population (allele frequency 0.93)
- Structural context available
- Literature evidence available