L1815W (p.Leu1815Trp) variant of SETD2 (Q9BYW2)
L1815W (p.Leu1815Trp) 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 0.80 / 1. The record also includes published literature.
L1815W (p.Leu1815Trp) variant details
- p.Leu1815Trp
- rs869025570
- ClinGen CA352148
- ClinVar RCV000208561
- UniProt VAR 076536
- Pathogenic
- Luscan-Lumish syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- AlphaMissense 1.00
- MetaLR 0.81
- MetaSVM 0.78
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.84
- ClinVar: Pathogenic (Luscan-Lumish syndrome)
- EBI: Pathogenic (in LLS)
- UniProt: Pathogenic (in LLS)
- Cited in: Mutations in SETD2 cause a novel overgrowth condition. (PMID 24852293)
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)