N31S (p.Asn31Ser) variant of IDS (Iduronate 2-sulfatase)
N31S (p.Asn31Ser) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
N31S (p.Asn31Ser) variant details
- p.Asn31Ser
- rs184190241
- ClinGen CA337036768
- ClinVar RCV002648227
- 1000Genomes rs184190241
- Likely benign
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.23
- CADD 0.71
- PolyPhen-2 0.00
- SIFT 0.61
- ClinVar: Likely benign (Mucopolysaccharidosis, MPS-II)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CHS population (allele frequency 0.0066)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)