I64N (p.Ile64Asn) variant of IDS (Iduronate 2-sulfatase)
I64N (p.Ile64Asn) 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 0.93 / 1. The record also includes published literature and structural context.
I64N (p.Ile64Asn) variant details
- p.Ile64Asn
- rs781997631
- ClinGen CA350641
- ClinVar RCV000206626
- ExAC rs781997631
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.89
- MetaLR 0.98
- MetaSVM 1.06
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- 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)