Y118C (p.Tyr118Cys) variant of TECRL (Q5HYJ1)
Y118C (p.Tyr118Cys) in TECRL (Q5HYJ1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
Y118C (p.Tyr118Cys) variant details
- p.Tyr118Cys
- rs552039384
- ClinGen CA2935575
- ClinVar RCV002459467
- 1000Genomes rs552039384
- Likely benign
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 14.10
- PolyPhen-2 0.00
- SIFT 0.07
- ClinVar: Likely benign (Cardiovascular phenotype)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available