I124T (p.Ile124Thr) variant of TECRL (Q5HYJ1)
I124T (p.Ile124Thr) 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 0.27 / 1. The record also includes population frequency data and structural context.
I124T (p.Ile124Thr) variant details
- p.Ile124Thr
- rs1381150700
- ClinGen CA357144811
- ClinVar RCV004521021
- gnomAD rs1381150700
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 21.30
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available