R5L (p.Arg5Leu) variant of IDS (Iduronate 2-sulfatase)
R5L (p.Arg5Leu) 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 0.26 / 1. The record also includes population frequency data and structural context.
R5L (p.Arg5Leu) variant details
- p.Arg5Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.37
- CADD 6.99
- PolyPhen-2 0.00
- SIFT 0.43
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available