D35G (p.Asp35Gly) variant of IDS (Iduronate 2-sulfatase)
D35G (p.Asp35Gly) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from EBI and UniProt describe it as benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
D35G (p.Asp35Gly) variant details
- p.Asp35Gly
- rs144081417
- ClinGen CA241305
- ClinVar RCV000675884
- ClinVar RCV001081199
- Benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.403
- REVEL 0.42
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 0.0004)
- Structural context available
- Cited in: Mucopolysaccharidosis Type II. (PMID 20301451)
- Cited in: Clinical utility gene card for: mucopolysaccharidosis type II. (PMID 21863056)