H18L (p.His18Leu) variant of MED13L (Q71F56)
H18L (p.His18Leu) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Dextro-looped transposition of the great arteries. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
H18L (p.His18Leu) variant details
- p.His18Leu
- rs2500191265
- ClinGen CA386927897
- ClinVar RCV002511198
- ClinVar RCV002574743
- Uncertain significance
- not provided; Dextro-looped transposition of the great arteries
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.79
- CADD 25.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; 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 4.5e-06)
- Structural context available