T49I (p.Thr49Ile) variant of TECRL (Q5HYJ1)
T49I (p.Thr49Ile) 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 0.07 / 1. The record also includes population frequency data and structural context.
T49I (p.Thr49Ile) variant details
- p.Thr49Ile
- rs779723331
- ClinGen CA2935685
- ClinVar RCV002396904
- ExAC rs779723331
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.0668
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 2.02
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available