R148Q (p.Arg148Gln) variant of MED13L (Q71F56)
R148Q (p.Arg148Gln) in MED13L (Q71F56) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiac anomalies - developmental delay - facial dysmorphism syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R148Q (p.Arg148Gln) variant details
- p.Arg148Gln
- rs1461395322
- ClinGen CA386926851
- ClinVar RCV001332059
- TOPMed rs1461395322
- Uncertain significance
- Cardiac anomalies - developmental delay - facial dysmorphism syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 22.80
- PolyPhen-2 0.27
- SIFT 0.17
- ClinVar: Uncertain significance (Cardiac anomalies - developmental delay - facial dysmorphism syn)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: MED13L Syndrome. (PMID 40228085)