M5V (p.Met5Val) variant of NPM1 (Nucleophosmin)
M5V (p.Met5Val) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
M5V (p.Met5Val) variant details
- p.Met5Val
- TOPMed rs1299020514
- gnomAD rs1299020514
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- REVEL 0.20
- CADD 22.70
- PolyPhen-2 0.04
- SIFT 0.22
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available