K137E (p.Lys137Glu) variant of MED13L (Q71F56)
K137E (p.Lys137Glu) 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 0.55 / 1. The record also includes population frequency data and structural context.
K137E (p.Lys137Glu) variant details
- p.Lys137Glu
- ESP rs138977360
- TOPMed rs138977360
- gnomAD rs138977360
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.44
- ESM-1b 0.79
- AlphaMissense 0.71
- CADD 24.50
- PolyPhen-2 0.24
- SIFT 0.00
- 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 6.6e-05)
- Structural context available