F24L (p.Phe24Leu) variant of TECRL (Q5HYJ1)
F24L (p.Phe24Leu) 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 0.20 / 1. The record also includes population frequency data and structural context.
F24L (p.Phe24Leu) variant details
- p.Phe24Leu
- rs768133298
- ClinGen CA2935700
- ClinVar RCV002367367
- ExAC rs768133298
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 6.57
- PolyPhen-2 0.00
- SIFT 0.09
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available