E161K (p.Glu161Lys) variant of MED13L (Q71F56)
E161K (p.Glu161Lys) 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 0.20 / 1. The record also includes structural context.
E161K (p.Glu161Lys) variant details
- p.Glu161Lys
- rs2499953337
- ClinGen CA386872619
- ClinVar RCV003497598
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.199
- ESM-1b 0.00
- AlphaMissense 0.78
- ClinVar: Uncertain significance (Dextro-looped transposition of the great arteries)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available