H50Y (p.His50Tyr) variant of CDH2 (Cadherin-2)
H50Y (p.His50Tyr) in CDH2 (Cadherin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H50Y (p.His50Tyr) variant details
- p.His50Tyr
- rs150672295
- ClinGen CA8923823
- ClinVar RCV001959661
- 1000Genomes rs150672295
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.312
- REVEL 0.10
- MetaLR 0.12
- MetaSVM -1.02
- CADD 22.20
- PolyPhen-2 0.07
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.0087)
- Structural context available