A36S (p.Ala36Ser) variant of IDS (Iduronate 2-sulfatase)
A36S (p.Ala36Ser) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A36S (p.Ala36Ser) variant details
- p.Ala36Ser
- rs782736039
- ExAC rs782736039
- TOPMed rs782736039
- gnomAD rs782736039
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.38
- CADD 0.66
- PolyPhen-2 0.00
- SIFT 0.74
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 6.7e-05)
- Structural context available