R53Q (p.Arg53Gln) variant of SETD2 (Q9BYW2)
R53Q (p.Arg53Gln) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Luscan-Lumish syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and published literature.
R53Q (p.Arg53Gln) variant details
- p.Arg53Gln
- rs745499104
- ClinGen CA73812486
- ClinVar RCV001296867
- TOPMed rs745499104
- Uncertain significance
- Luscan-Lumish syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.32
- CADD 25.50
- PolyPhen-2 0.88
- SIFT 0.00
- ClinVar: Uncertain significance (Luscan-Lumish syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)