S61P (p.Ser61Pro) variant of IDS (Iduronate 2-sulfatase)
S61P (p.Ser61Pro) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes published literature and structural context.
S61P (p.Ser61Pro) variant details
- p.Ser61Pro
- rs113993955
- ClinGen CA350785
- ClinVar RCV000206790
- ClinVar RCV001092169
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- AlphaMissense 0.86
- MetaLR 0.99
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.01
- EVE 0.78
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)