L30V (p.Leu30Val) variant of NUDT15 (Q9NV35)
L30V (p.Leu30Val) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
L30V (p.Leu30Val) variant details
- p.Leu30Val
- TOPMed rs1202487323
- gnomAD rs1202487323
- Missense
- Variant Prioritization Score for Impact Estimate 0.391
- REVEL 0.24
- MetaLR 0.22
- MetaSVM -0.70
- CADD 22.90
- PolyPhen-2 0.94
- SIFT 0.07
- Most common in the Latino/Admixed American population (allele frequency 2.4e-05)
- Structural context available