V44M (p.Val44Met) variant of IDS (Iduronate 2-sulfatase)
V44M (p.Val44Met) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
V44M (p.Val44Met) variant details
- p.Val44Met
- rs1308426956
- TOPMed rs1308426956
- gnomAD rs1308426956
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.687
- REVEL 0.75
- CADD 24.20
- PolyPhen-2 0.97
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.9e-05)
- Structural context available