R1740W (p.Arg1740Trp) variant of SETD2 (Q9BYW2)
R1740W (p.Arg1740Trp) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Luscan-Lumish syndrome; not provided; SETD2 associated neurodevelopmental disord. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes published literature.
R1740W (p.Arg1740Trp) variant details
- p.Arg1740Trp
- rs1057523157
- ClinGen CA16604601
- cosmic curated COSV57434
- ClinVar RCV000426759
- Pathogenic/Likely pathogenic
- Luscan-Lumish syndrome; not provided; SETD2 associated neurodevelopmental disord
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- AlphaMissense 0.84
- MetaLR 0.86
- MetaSVM 0.89
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.86
- ClinVar: Pathogenic/Likely pathogenic (Luscan-Lumish syndrome; not provided; SETD2 associated neurodeve)
- EBI: Pathogenic (in RAPAS)
- UniProt: Pathogenic (in RAPAS)
- Cited in: Genotype-phenotype correlation at codon 1740 of SETD2. (PMID 32710489)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)