D30E (p.Asp30Glu) variant of ANK2 (Ankyrin-2)
D30E (p.Asp30Glu) in ANK2 (Ankyrin-2) 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 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
D30E (p.Asp30Glu) variant details
- p.Asp30Glu
- NCI-TCGA Cosmic COSV5215
- cosmic curated COSV52157
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- CADD 17.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:MIAO population (allele frequency 0.05)
- Structural context available
- ANK2 Death domain domainome 1.0: score -0.202