Y113C (p.Tyr113Cys) variant of SPI1 (Transcription factor PU.1)
Y113C (p.Tyr113Cys) in SPI1 (Transcription factor PU.1) 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 0.24 / 1. The record also includes population frequency data and structural context.
Y113C (p.Tyr113Cys) variant details
- p.Tyr113Cys
- ESP rs376045381
- ExAC rs376045381
- TOPMed rs376045381
- gnomAD rs376045381
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.06
- MetaLR 0.08
- MetaSVM -1.06
- CADD 23.20
- PolyPhen-2 0.02
- SIFT 0.04
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00019)
- Structural context available