V18I (p.Val18Ile) variant of NUDT15 (Q9NV35)
V18I (p.Val18Ile) in NUDT15 (Q9NV35) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign; drug response in the context of Thiopurines, poor metabolism of, 2; NUDT15-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V18I (p.Val18Ile) variant details
- p.Val18Ile
- rs186364861
- ClinGen CA358313
- ClinVar RCV000210850
- ClinVar RCV003937795
- Likely benign; drug response
- Thiopurines, poor metabolism of, 2; NUDT15-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- REVEL 0.27
- MetaLR 0.06
- MetaSVM -1.17
- CADD 25.40
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Likely benign; drug response (Thiopurines, poor metabolism of, 2; NUDT15-related disorder)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:XIBO population (allele frequency 0.056)
- Structural context available
- Cited in: NUDT15 polymorphisms alter thiopurine metabolism and hematopoietic toxicity. (PMID 26878724)