A53V (p.Ala53Val) variant of NPM1 (Nucleophosmin)
A53V (p.Ala53Val) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- ExAC rs774730997
- TOPMed rs774730997
- gnomAD rs774730997
- Missense
- Variant Prioritization Score for Impact Estimate 0.509
- REVEL 0.40
- CADD 24.90
- PolyPhen-2 0.42
- SIFT 0.03
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available