F146Y (p.Phe146Tyr) variant of MED13L (Q71F56)
F146Y (p.Phe146Tyr) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes structural context.
F146Y (p.Phe146Tyr) variant details
- p.Phe146Tyr
- rs2500281679
- ClinGen CA386926862
- ClinVar RCV003498038
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- ESM-1b 0.00
- AlphaMissense 0.68
- ClinVar: Uncertain significance (Dextro-looped transposition of the great arteries)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available