Y150C (p.Tyr150Cys) variant of MED13L (Q71F56)
Y150C (p.Tyr150Cys) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
Y150C (p.Tyr150Cys) variant details
- p.Tyr150Cys
- ExAC rs762975453
- gnomAD rs762975453
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.54
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available