Y150F (p.Tyr150Phe) variant of MED13L (Q71F56)
Y150F (p.Tyr150Phe) in MED13L (Q71F56) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
Y150F (p.Tyr150Phe) variant details
- p.Tyr150Phe
- ExAC rs762975453
- gnomAD rs762975453
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- REVEL 0.42
- ESM-1b 0.26
- AlphaMissense 0.13
- CADD 23.80
- PolyPhen-2 0.98
- SIFT 0.08
- Most common in the South Asian population (allele frequency 8.1e-05)
- Structural context available