C96Y (p.Cys96Tyr) variant of TECRL (Q5HYJ1)
C96Y (p.Cys96Tyr) in TECRL (Q5HYJ1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
C96Y (p.Cys96Tyr) variant details
- p.Cys96Tyr
- cosmic curated COSV67090
- 1000Genomes rs571015448
- ExAC rs571015448
- gnomAD rs571015448
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available