F60L (p.Phe60Leu) variant of TECRL (Q5HYJ1)
F60L (p.Phe60Leu) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
F60L (p.Phe60Leu) variant details
- p.Phe60Leu
- Ensembl rs1578011790
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.72
- CADD 16.70
- PolyPhen-2 0.05
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available