Y1666C (p.Tyr1666Cys) variant of SETD2 (Q9BYW2)
Y1666C (p.Tyr1666Cys) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Genetic syndrome with a Dandy-Walker malformation as major feature; Ventriculome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and published literature.
Y1666C (p.Tyr1666Cys) variant details
- p.Tyr1666Cys
- rs1559720382
- ClinGen CA352513058
- cosmic curated COSV57434
- ClinVar RCV000779642
- Pathogenic/Likely pathogenic
- Genetic syndrome with a Dandy-Walker malformation as major feature; Ventriculome
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.94
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Genetic syndrome with a Dandy-Walker malformation as major featu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: SETD2 Neurodevelopmental Disorders. (PMID 34978780)