S26C (p.Ser26Cys) variant of IDS (Iduronate 2-sulfatase)
S26C (p.Ser26Cys) 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 0.34 / 1. The record also includes population frequency data and structural context.
S26C (p.Ser26Cys) variant details
- p.Ser26Cys
- rs1557340575
- NCI-TCGA Cosmic COSV6171
- cosmic curated COSV61715
- gnomAD rs1557340575
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.335
- REVEL 0.43
- CADD 8.32
- PolyPhen-2 0.12
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available