A21D (p.Ala21Asp) variant of LRP2 (P98164)
A21D (p.Ala21Asp) 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; not provided. The record also includes published literature and structural context.
A21D (p.Ala21Asp) variant details
- p.Ala21Asp
- rs2105595067
- ClinGen CA2573133668
- ClinVar RCV001982219
- ClinVar RCV005023481
- Uncertain significance
- Donnai-Barrow syndrome; not provided
- Missense
- ClinVar: Uncertain significance (Donnai-Barrow syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)