L8R (p.Leu8Arg) variant of TECRL (Q5HYJ1)
L8R (p.Leu8Arg) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- gnomAD rs1309019628
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 19.40
- PolyPhen-2 0.35
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available