K57R (p.Lys57Arg) variant of SETD2 (Q9BYW2)
K57R (p.Lys57Arg) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Autism spectrum disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and published literature.
K57R (p.Lys57Arg) variant details
- p.Lys57Arg
- rs2106728625
- ClinGen CA352538358
- ClinVar RCV003127361
- Likely benign
- Autism spectrum disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.40
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.02
- ClinVar: Likely benign (Autism spectrum disorder)
- EBI: Likely benign
- UniProt: Likely benign
- Population evidence available
- Cited in: American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay… (PMID 16301868)
- Cited in: Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental… (PMID 20466091)