Y2522H (p.Tyr2522His) variant of LRP2 (P98164)
Y2522H (p.Tyr2522His) in LRP2 (P98164) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Donnai-Barrow syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
Y2522H (p.Tyr2522His) variant details
- p.Tyr2522His
- rs80338747
- ClinGen CA340909
- ClinVar RCV000010058
- ClinVar RCV000412752
- Pathogenic/Likely pathogenic
- not provided; Donnai-Barrow syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.919
- AlphaMissense 0.78
- MetaLR 0.99
- MetaSVM 1.02
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.85
- ClinVar: Pathogenic/Likely pathogenic (not provided; Donnai-Barrow syndrome)
- EBI: Pathogenic (in DBS)
- UniProt: Pathogenic (in DBS)
- Structural context available
- Cited in: Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal… (PMID 17632512)
- Cited in: Donnai-Barrow Syndrome. (PMID 20301732)