T80A (p.Thr80Ala) variant of TECRL (Q5HYJ1)
T80A (p.Thr80Ala) 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 0.11 / 1. The record also includes population frequency data and structural context.
T80A (p.Thr80Ala) variant details
- p.Thr80Ala
- rs1247421702
- ClinGen CA357150352
- ClinVar RCV002459549
- TOPMed rs1247421702
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 7.47
- PolyPhen-2 0.00
- SIFT 0.45
- 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