P2T (p.Pro2Thr) variant of IDS (Iduronate 2-sulfatase)
P2T (p.Pro2Thr) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Mucopolysaccharidosis, MPS-II. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P2T (p.Pro2Thr) variant details
- p.Pro2Thr
- TOPMed rs1382230677
- gnomAD rs1382230677
- Pathogenic
- Mucopolysaccharidosis, MPS-II
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.29
- CADD 6.93
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Pathogenic (Mucopolysaccharidosis, MPS-II)
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3.3e-05)
- Structural context available