D35V (p.Asp35Val) variant of IDS (Iduronate 2-sulfatase)
D35V (p.Asp35Val) in IDS (Iduronate 2-sulfatase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D35V (p.Asp35Val) variant details
- p.Asp35Val
- rs144081417
- ClinGen CA414527975
- ClinVar RCV002269412
- ESP rs144081417
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.42
- CADD 16.60
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 3.7e-05)
- Structural context available