P11A (p.Pro11Ala) variant of NPM1 (Nucleophosmin)
P11A (p.Pro11Ala) in NPM1 (Nucleophosmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P11A (p.Pro11Ala) variant details
- p.Pro11Ala
- gnomAD 5-171387979-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- REVEL 0.18
- CADD 23.80
- PolyPhen-2 0.72
- SIFT 0.05
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available