A57S (p.Ala57Ser) variant of LRP2 (P98164)
A57S (p.Ala57Ser) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Donnai-Barrow syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A57S (p.Ala57Ser) variant details
- p.Ala57Ser
- rs147295930
- ClinGen CA1955980
- ClinVar RCV001465374
- ClinVar RCV001542320
- Conflicting interpretations
- not provided; Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.0784
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Donnai-Barrow syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)