R2P (p.Arg2Pro) variant of IDUA (Alpha-L-iduronidase)
R2P (p.Arg2Pro) 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 0.61 / 1. The record also includes published literature and structural context.
R2P (p.Arg2Pro) variant details
- p.Arg2Pro
- rs1327366420
- ClinGen CA355945222
- ClinVar RCV002671967
- Uncertain significance
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.614
- AlphaMissense 0.29
- MetaLR 0.74
- MetaSVM 0.11
- PolyPhen-2 0.80
- SIFT 0.13
- MutPred 0.40
- ClinVar: Uncertain significance (Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)