L108P (p.Leu108Pro) variant of TECRL (Q5HYJ1)
L108P (p.Leu108Pro) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L108P (p.Leu108Pro) variant details
- p.Leu108Pro
- TOPMed rs1577879377
- gnomAD rs1577879377
- Missense
- Variant Prioritization Score for Impact Estimate 0.463
- REVEL 0.36
- ESM-1b 0.66
- AlphaMissense 0.24
- CADD 27.10
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available