A5V (p.Ala5Val) variant of NUDT15 (Q9NV35)
A5V (p.Ala5Val) in NUDT15 (Q9NV35) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A5V (p.Ala5Val) variant details
- p.Ala5Val
- ExAC rs761635179
- TOPMed rs761635179
- gnomAD rs761635179
- Missense
- Variant Prioritization Score for Impact Estimate 0.184
- REVEL 0.01
- MetaLR 0.06
- MetaSVM -1.04
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.20
- Most common in the Non-Finnish European population (allele frequency 0.00018)
- Structural context available