C165Y (p.Cys165Tyr) variant of MED13L (Q71F56)
C165Y (p.Cys165Tyr) 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 0.18 / 1. The record also includes structural context.
C165Y (p.Cys165Tyr) variant details
- p.Cys165Tyr
- rs2499953263
- ClinGen CA386872529
- ClinVar RCV003064876
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- ESM-1b 0.00
- AlphaMissense 0.97
- ClinVar: Uncertain significance (Dextro-looped transposition of the great arteries)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available