V620F (p.Val620Phe) variant of IDUA (Alpha-L-iduronidase)
V620F (p.Val620Phe) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Mucopolysaccharidosis type 1. 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.
V620F (p.Val620Phe) variant details
- p.Val620Phe
- rs2153023278
- ClinGen CA355965934
- ClinVar RCV001378365
- Ensembl rs2153023278
- Pathogenic/Likely pathogenic
- Mucopolysaccharidosis type 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.83
- CADD 26.00
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Mucopolysaccharidosis type 1)
- EBI: Pathogenic (in MPS1H)
- UniProt: Pathogenic (in MPS1H)
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available
- Cited in: Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of… (PMID 19396826)
- Cited in: Mucopolysaccharidosis Type I. (PMID 20301341)