C80Y (p.Cys80Tyr) variant of MED13L (Q71F56)
C80Y (p.Cys80Tyr) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
C80Y (p.Cys80Tyr) variant details
- p.Cys80Tyr
- ExAC rs762303455
- gnomAD rs762303455
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.30
- ESM-1b 0.00
- AlphaMissense 0.15
- CADD 22.60
- PolyPhen-2 0.36
- SIFT 0.22
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available