V8M (p.Val8Met) variant of LRP2 (P98164)
V8M (p.Val8Met) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- rs747080240
- ClinGen CA1956028
- ClinVar RCV002023719
- ClinVar RCV002486727
- Uncertain significance
- Donnai-Barrow syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- CADD 14.30
- PolyPhen-2 0.28
- SIFT 0.19
- ClinVar: Uncertain significance (Donnai-Barrow syndrome; not provided)
- 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)