Q77E (p.Gln77Glu) variant of ANKRD1 (Q15327)
Q77E (p.Gln77Glu) in ANKRD1 (Q15327) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
Q77E (p.Gln77Glu) variant details
- p.Gln77Glu
- rs869025362
- ClinGen CA351967
- ClinVar RCV000208357
- Ensembl rs869025362
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.318
- AlphaMissense 0.08
- MetaLR 0.14
- MetaSVM -0.88
- PolyPhen-2 0.00
- SIFT 0.59
- EVE 0.11
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)
- Cited in: Nonsyndromic Hypertrophic Cardiomyopathy Overview. (PMID 20301725)