D56Y (p.Asp56Tyr) variant of IDS (Iduronate 2-sulfatase)
D56Y (p.Asp56Tyr) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D56Y (p.Asp56Tyr) variant details
- p.Asp56Tyr
- ExAC rs781919816
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.605
- REVEL 0.69
- AlphaMissense 0.20
- MetaLR 0.98
- MetaSVM 1.15
- CADD 16.90
- PolyPhen-2 0.03
- ClinVar: Likely benign (not provided)
- UniProt: Likely benign
- Most common in the Middle Eastern population (allele frequency 0.00024)
- Structural context available