R1879C (p.Arg1879Cys) variant of SETD2 (Q9BYW2)
R1879C (p.Arg1879Cys) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Luscan-Lumish syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and published literature.
R1879C (p.Arg1879Cys) variant details
- p.Arg1879Cys
- rs1575744958
- ClinGen CA352535491
- cosmic curated COSV10735
- ClinVar RCV001302348
- Pathogenic
- Luscan-Lumish syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.29
- CADD 29.80
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (Luscan-Lumish syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)