E11G (p.Glu11Gly) variant of TECRL (Q5HYJ1)
E11G (p.Glu11Gly) 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 0.14 / 1. The record also includes population frequency data and structural context.
E11G (p.Glu11Gly) variant details
- p.Glu11Gly
- Ensembl rs1560569313
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available