H240D (p.His240Asp) variant of IDUA (Alpha-L-iduronidase)
H240D (p.His240Asp) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Mucopolysaccharidosis type 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes structural context.
H240D (p.His240Asp) variant details
- p.His240Asp
- rs1374359136
- ClinGen CA355962125
- ClinVar RCV003434916
- Conflicting interpretations
- not provided; Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- AlphaMissense 0.65
- MetaLR 0.85
- MetaSVM 0.51
- PolyPhen-2 0.98
- SIFT 0.28
- EVE 0.71
- ClinVar: Conflicting classifications of pathogenicity (not provided; Mucopolysaccharidosis type 1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available