D34H (p.Asp34His) variant of NPM1 (Nucleophosmin)
D34H (p.Asp34His) in NPM1 (Nucleophosmin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D34H (p.Asp34His) variant details
- p.Asp34His
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.30
- CADD 32.00
- PolyPhen-2 0.89
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available