L4M (p.Leu4Met) variant of IDUA (Alpha-L-iduronidase)
L4M (p.Leu4Met) in IDUA (Alpha-L-iduronidase) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
L4M (p.Leu4Met) variant details
- p.Leu4Met
- TOPMed rs1042371669
- gnomAD rs1042371669
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.125
- CADD 8.73
- PolyPhen-2 0.09
- SIFT 0.23
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 3.7e-05)
- Structural context available