Q122E (p.Gln122Glu) variant of TECRL (Q5HYJ1)
Q122E (p.Gln122Glu) 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 0.19 / 1. The record also includes population frequency data and structural context.
Q122E (p.Gln122Glu) variant details
- p.Gln122Glu
- rs139611710
- ClinGen CA2935573
- ClinVar RCV002452476
- ESP rs139611710
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 12.00
- PolyPhen-2 0.00
- SIFT 0.13
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available