F114C (p.Phe114Cys) variant of TECRL (Q5HYJ1)
F114C (p.Phe114Cys) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
F114C (p.Phe114Cys) variant details
- p.Phe114Cys
- Ensembl rs1717996398
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.17
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 22.20
- PolyPhen-2 0.54
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available