N265K (p.Asn265Lys) variant of IDS (Iduronate 2-sulfatase)
N265K (p.Asn265Lys) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
N265K (p.Asn265Lys) variant details
- p.Asn265Lys
- rs1207417919
- ClinGen CA414521928
- NCI-TCGA Cosmic COSV1005
- cosmic curated COSV10055
- Likely pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.95
- MetaLR 0.99
- MetaSVM 1.04
- PolyPhen-2 0.96
- SIFT 0.01
- EVE 0.51
- ClinVar: Likely pathogenic (Mucopolysaccharidosis, MPS-II)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)