P45R (p.Pro45Arg) variant of MED13L (Q71F56)
P45R (p.Pro45Arg) 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 0.68 / 1. The record also includes population frequency data and structural context.
P45R (p.Pro45Arg) variant details
- p.Pro45Arg
- rs2500017153
- ClinGen CA386927593
- ClinVar RCV003499101
- Uncertain significance
- Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.74
- ESM-1b 0.00
- AlphaMissense 0.63
- CADD 28.00
- PolyPhen-2 1.00
- 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 9e-07)
- Structural context available