S106G (p.Ser106Gly) variant of LRP2 (P98164)
S106G (p.Ser106Gly) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Donnai-Barrow syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
S106G (p.Ser106Gly) variant details
- p.Ser106Gly
- rs754114646
- ClinGen CA1955917
- ClinVar RCV001864498
- ClinVar RCV005023332
- Uncertain significance
- Inborn genetic diseases; Donnai-Barrow syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- CADD 7.54
- PolyPhen-2 0.10
- SIFT 0.42
- ClinVar: Uncertain significance (Inborn genetic diseases; Donnai-Barrow syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)