I115T (p.Ile115Thr) variant of ANKRD1 (Q15327)
I115T (p.Ile115Thr) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, 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 0.30 / 1. The record also includes population frequency data and structural context.
I115T (p.Ile115Thr) variant details
- p.Ile115Thr
- rs886973409
- ClinGen CA211424823
- ClinVar RCV004519539
- TOPMed rs886973409
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- REVEL 0.16
- CADD 23.00
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available