A43E (p.Ala43Glu) variant of LRP2 (P98164)
A43E (p.Ala43Glu) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Donnai-Barrow syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data, published literature, and structural context.
A43E (p.Ala43Glu) variant details
- p.Ala43Glu
- rs746960003
- ClinGen CA1955987
- ClinVar RCV001954328
- ClinVar RCV005025540
- Uncertain significance
- not provided; Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0725
- CADD 0.01
- PolyPhen-2 0.12
- SIFT 0.76
- ClinVar: Uncertain significance (not provided; Donnai-Barrow syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)