C286F (p.Cys286Phe) variant of LRP2 (P98164)
C286F (p.Cys286Phe) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Donnai-Barrow syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes published literature and structural context.
C286F (p.Cys286Phe) variant details
- p.Cys286Phe
- rs2105467271
- ClinGen CA349157923
- ClinVar RCV001849819
- Ensembl rs2105467271
- Likely pathogenic
- Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.969
- AlphaMissense 0.98
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.90
- ClinVar: Likely pathogenic (Donnai-Barrow syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)