E77V (p.Glu77Val) variant of LRP2 (P98164)
E77V (p.Glu77Val) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Donnai-Barrow syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
E77V (p.Glu77Val) variant details
- p.Glu77Val
- rs200113428
- ClinGen CA1955952
- ClinVar RCV002206077
- ClinVar RCV005025693
- Conflicting interpretations
- Donnai-Barrow syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- CADD 13.90
- PolyPhen-2 0.11
- SIFT 0.02
- ClinVar: Conflicting classifications of pathogenicity (Donnai-Barrow syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)