C74Y (p.Cys74Tyr) variant of TECRL (Q5HYJ1)
C74Y (p.Cys74Tyr) 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 0.49 / 1. The record also includes population frequency data and structural context.
C74Y (p.Cys74Tyr) variant details
- p.Cys74Tyr
- rs894970499
- ClinGen CA98683982
- NCI-TCGA Cosmic COSV1011
- cosmic curated COSV10116
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.25
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available