Q75H (p.Gln75His) variant of IDS (Iduronate 2-sulfatase)
Q75H (p.Gln75His) 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 0.39 / 1. The record also includes population frequency data and structural context.
Q75H (p.Gln75His) variant details
- p.Gln75His
- NCI-TCGA Cosmic COSV6171
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.43
- CADD 20.30
- PolyPhen-2 0.03
- SIFT 0.56
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available