E61D (p.Glu61Asp) variant of TECRL (Q5HYJ1)
E61D (p.Glu61Asp) in TECRL (Q5HYJ1) 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 0.35 / 1. The record also includes population frequency data and structural context.
E61D (p.Glu61Asp) variant details
- p.Glu61Asp
- ExAC rs765496405
- TOPMed rs765496405
- gnomAD rs765496405
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.33
- ESM-1b 0.00
- AlphaMissense 0.69
- CADD 23.00
- PolyPhen-2 0.97
- SIFT 0.03
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available