A57V (p.Ala57Val) variant of LRP2 (P98164)
A57V (p.Ala57Val) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Donnai-Barrow syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
A57V (p.Ala57Val) variant details
- p.Ala57Val
- rs115350461
- ClinGen CA1955978
- cosmic curated COSV55549
- ClinVar RCV000405564
- Conflicting interpretations
- Donnai-Barrow syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- CADD 22.60
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Donnai-Barrow syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)