L8H (p.Leu8His) variant of TECRL (Q5HYJ1)
L8H (p.Leu8His) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
L8H (p.Leu8His) variant details
- p.Leu8His
- gnomAD rs1309019628
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 23.40
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available