R148P (p.Arg148Pro) variant of MED13L (Q71F56)
R148P (p.Arg148Pro) 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 0.66 / 1. The record also includes population frequency data and structural context.
R148P (p.Arg148Pro) variant details
- p.Arg148Pro
- TOPMed rs1461395322
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.47
- ESM-1b 1.00
- AlphaMissense 0.91
- CADD 26.40
- PolyPhen-2 0.74
- 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 Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available