T49A (p.Thr49Ala) variant of TECRL (Q5HYJ1)
T49A (p.Thr49Ala) 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.
T49A (p.Thr49Ala) variant details
- p.Thr49Ala
- rs748941395
- ClinGen CA2935686
- ClinVar RCV003310684
- ExAC rs748941395
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.069
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 0.17
- PolyPhen-2 0.00
- SIFT 0.57
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available