E113* (p.Glu113Ter) variant of ANKRD1 (Q15327)
E113* (p.Glu113Ter) in ANKRD1 (Q15327) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
E113* (p.Glu113Ter) variant details
- p.Glu113Ter
- rs183324142
- ClinGen CA5598800
- ClinVar RCV003296218
- ClinVar RCV005422291
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.58
- AlphaMissense 0.10
- MetaLR 0.18
- MetaSVM -0.91
- CADD 40.00
- PolyPhen-2 0.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available