E109K (p.Glu109Lys) variant of TECRL (Q5HYJ1)
E109K (p.Glu109Lys) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, 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 0.39 / 1. The record also includes population frequency data and structural context.
E109K (p.Glu109Lys) variant details
- p.Glu109Lys
- rs760350383
- ClinGen CA2935600
- ClinVar RCV002324954
- ExAC rs760350383
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.25
- CADD 26.30
- PolyPhen-2 0.82
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available