H54L (p.His54Leu) variant of TECRL (Q5HYJ1)
H54L (p.His54Leu) in TECRL (Q5HYJ1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
H54L (p.His54Leu) variant details
- p.His54Leu
- ExAC rs768151844
- gnomAD rs768151844
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.08
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.12
- MetaSVM -0.86
- CADD 14.70
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available