D93G (p.Asp93Gly) variant of LRP4 (O75096)
D93G (p.Asp93Gly) in LRP4 (O75096) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
D93G (p.Asp93Gly) variant details
- p.Asp93Gly
- rs1231831456
- ClinGen CA380290259
- ClinVar RCV001756841
- ClinVar RCV006377408
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.881
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 0.96
- PolyPhen-2 1.00
- SIFT 0.04
- MutPred 0.58
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)
- Cited in: Including the initial newborn screening bloodspot collection device serial number on birth certificates: basis and… (PMID 23037933)