P302T (p.Pro302Thr) variant of IDUA (Alpha-L-iduronidase)
P302T (p.Pro302Thr) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P302T (p.Pro302Thr) variant details
- p.Pro302Thr
- rs1715120993
- ClinGen CA355962529
- ClinVar RCV001378444
- ClinVar RCV003132488
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- REVEL 0.94
- CADD 24.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)