A57G (p.Ala57Gly) variant of LRP2 (P98164)
A57G (p.Ala57Gly) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Donnai-Barrow syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
A57G (p.Ala57Gly) variant details
- p.Ala57Gly
- 1000Genomes rs115350461
- ESP rs115350461
- ExAC rs115350461
- TOPMed rs115350461
- Uncertain significance
- Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- CADD 22.90
- PolyPhen-2 0.13
- SIFT 0.00
- ClinVar: Uncertain significance (Donnai-Barrow syndrome)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available