L8F (p.Leu8Phe) variant of TECRL (Q5HYJ1)
L8F (p.Leu8Phe) 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 0.27 / 1. The record also includes population frequency data and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- ExAC rs762237226
- gnomAD rs762237226
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.20
- MetaSVM -0.92
- CADD 20.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available