C74R (p.Cys74Arg) variant of TECRL (Q5HYJ1)
C74R (p.Cys74Arg) 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 0.45 / 1. The record also includes population frequency data and structural context.
C74R (p.Cys74Arg) variant details
- p.Cys74Arg
- rs749103018
- ClinGen CA2935668
- ClinVar RCV002425848
- ExAC rs749103018
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.37
- ESM-1b 0.75
- AlphaMissense 0.33
- CADD 25.30
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available