F54C (p.Phe54Cys) variant of SETD2 (Q9BYW2)
F54C (p.Phe54Cys) in SETD2 (Q9BYW2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1.
F54C (p.Phe54Cys) variant details
- p.Phe54Cys
- rs2043245978
- ClinVar RCV004586093
- TOPMed rs2043245978
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.731
- AlphaMissense 1.00
- MetaLR 0.73
- MetaSVM 0.66
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance