P480L (p.Pro480Leu) variant of IDS (Iduronate 2-sulfatase)
P480L (p.Pro480Leu) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mucopolysaccharidosis, MPS-II; Mucopolysaccharidosis, MPS-III-A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
P480L (p.Pro480Leu) variant details
- p.Pro480Leu
- rs2123994251
- ClinGen CA414518089
- ClinVar RCV002040570
- UniProt VAR 026957
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis, MPS-II; Mucopolysaccharidosis, MPS-III-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.8
- REVEL 0.93
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis, MPS-II; Mucopolysaccharidosis, MPS-III-A)
- EBI: Pathogenic (in MPS2)
- UniProt: Pathogenic (in MPS2)
- Most common in the Non-Finnish European population (allele frequency 2.4e-06)
- Structural context available
- Cited in: Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. (PMID 9660053)
- Cited in: Detection of four novel mutations in the iduronate-2-sulfatase gene. Mutations in brief no. 123. Online. (PMID 10215411)