Y100H (p.Tyr100His) variant of TECRL (Q5HYJ1)
Y100H (p.Tyr100His) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar 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 0.56 / 1. The record also includes structural context.
Y100H (p.Tyr100His) variant details
- p.Tyr100His
- cosmic curated COSV10116
- TOPMed rs1718414014
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- ESM-1b 0.84
- AlphaMissense 0.13
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Structural context available