D42Y (p.Asp42Tyr) variant of MED13L (Q71F56)
D42Y (p.Asp42Tyr) 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 0.49 / 1. The record also includes population frequency data and structural context.
D42Y (p.Asp42Tyr) variant details
- p.Asp42Tyr
- rs1247142719
- ClinGen CA386927615
- ClinVar RCV001950415
- gnomAD rs1247142719
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.21
- CADD 26.10
- PolyPhen-2 0.77
- SIFT 0.01
- ClinVar: Uncertain significance (Dextro-looped transposition of the great arteries)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available