E40Q (p.Glu40Gln) variant of ANKRD1 (Q15327)
E40Q (p.Glu40Gln) in ANKRD1 (Q15327) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ANKRD1-related dilated cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
E40Q (p.Glu40Gln) variant details
- p.Glu40Gln
- rs1316020181
- ClinGen CA377553856
- ClinVar RCV001327312
- TOPMed rs1316020181
- Uncertain significance
- ANKRD1-related dilated cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.32
- AlphaMissense 0.59
- MetaLR 0.30
- MetaSVM -0.68
- CADD 24.50
- PolyPhen-2 0.70
- ClinVar: Uncertain significance (ANKRD1-related dilated cardiomyopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available
- Cited in: Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy. (PMID 19608031)