E32Q (p.Glu32Gln) variant of ANKRD1 (Q15327)
E32Q (p.Glu32Gln) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
E32Q (p.Glu32Gln) variant details
- p.Glu32Gln
- TOPMed rs1417348160
- gnomAD rs1417348160
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.06
- CADD 16.90
- PolyPhen-2 0.01
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available