R86C (p.Arg86Cys) variant of SPI1 (Transcription factor PU.1)
R86C (p.Arg86Cys) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R86C (p.Arg86Cys) variant details
- p.Arg86Cys
- TOPMed rs537934199
- gnomAD rs537934199
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.22
- MetaLR 0.11
- MetaSVM -1.04
- CADD 31.00
- PolyPhen-2 0.89
- SIFT 0.01
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available