F92C (p.Phe92Cys) variant of TECRL (Q5HYJ1)
F92C (p.Phe92Cys) 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 0.47 / 1. The record also includes population frequency data and structural context.
F92C (p.Phe92Cys) variant details
- p.Phe92Cys
- ExAC rs755309877
- TOPMed rs755309877
- gnomAD rs755309877
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.27
- ESM-1b 1.00
- AlphaMissense 0.56
- CADD 24.20
- PolyPhen-2 0.37
- SIFT 0.00
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available