F60C (p.Phe60Cys) variant of TECRL (Q5HYJ1)
F60C (p.Phe60Cys) 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 0.43 / 1. The record also includes population frequency data and structural context.
F60C (p.Phe60Cys) variant details
- p.Phe60Cys
- rs2475861153
- ClinGen CA357148955
- ClinVar RCV002407859
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.26
- ESM-1b 0.58
- AlphaMissense 0.23
- CADD 24.70
- PolyPhen-2 0.71
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available