G21E (p.Gly21Glu) variant of ANKRD1 (Q15327)
G21E (p.Gly21Glu) in ANKRD1 (Q15327) 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 0.41 / 1. The record also includes population frequency data and structural context.
G21E (p.Gly21Glu) variant details
- p.Gly21Glu
- NCI-TCGA TCGA novel
- Ensembl rs1847422439
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.29
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available