Y118H (p.Tyr118His) variant of TECRL (Q5HYJ1)
Y118H (p.Tyr118His) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
Y118H (p.Tyr118His) variant details
- p.Tyr118His
- ExAC rs773666554
- gnomAD rs773666554
- Missense
- Variant Prioritization Score for Impact Estimate 0.0944
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 10.20
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available