p.Gly17 Val18del variant of NUDT15 (Q9NV35)
p.Gly17 Val18del in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly17 Val18del variant details
- rs746071566
- gnomAD 13-48037782-AGGAG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.219
- CADD 19.60
- Most common in the HGDP:BRAHUI population (allele frequency 0.023)
- Structural context available
- Cited in: Higher prevalence of NUDT15 rs116855232 compared to TPMT rs1142345 in a Chinese cohort and its implications for… (PMID 41050419)