P14A (p.Pro14Ala) variant of NPM1 (Nucleophosmin)
P14A (p.Pro14Ala) 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.
P14A (p.Pro14Ala) variant details
- p.Pro14Ala
- gnomAD 5-171387988-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.384
- REVEL 0.14
- CADD 23.10
- PolyPhen-2 0.31
- SIFT 0.06
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available