K3E (p.Lys3Glu) variant of TECRL (Q5HYJ1)
K3E (p.Lys3Glu) 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 0.20 / 1. The record also includes population frequency data and structural context.
K3E (p.Lys3Glu) variant details
- p.Lys3Glu
- rs2475862886
- ClinGen CA357149608
- ClinVar RCV004521028
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.50
- PolyPhen-2 0.01
- 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 2.7e-06)
- Structural context available