D254Y (p.Asp254Tyr) variant of CDH1 (Cadherin-1)
D254Y (p.Asp254Tyr) in CDH1 (Cadherin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Blepharocheilodontic syndrome 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D254Y (p.Asp254Tyr) variant details
- p.Asp254Tyr
- rs1555515445
- ClinGen CA396458614
- NCI-TCGA Cosmic COSV5572
- cosmic curated COSV55727
- Pathogenic
- Blepharocheilodontic syndrome 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.942
- AlphaMissense 0.99
- MetaLR 0.91
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic (Blepharocheilodontic syndrome 1)
- EBI: Pathogenic (in BCDS1)
- UniProt: Pathogenic (in BCDS1)
- Structural context available
- Cited in: Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. (PMID 28301459)