L134P (p.Leu134Pro) variant of MED13L (Q71F56)
L134P (p.Leu134Pro) 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 1.00 / 1. The record also includes structural context.
L134P (p.Leu134Pro) variant details
- p.Leu134Pro
- rs1565875400
- ClinGen CA386926948
- ClinVar RCV000696733
- Ensembl rs1565875400
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 1
- ESM-1b 1.00
- AlphaMissense 1.00
- ClinVar: Uncertain significance (Dextro-looped transposition of the great arteries)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available