E63K (p.Glu63Lys) variant of SPI1 (Transcription factor PU.1)
E63K (p.Glu63Lys) 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.
E63K (p.Glu63Lys) variant details
- p.Glu63Lys
- ExAC rs766172098
- TOPMed rs766172098
- gnomAD rs766172098
- Missense
- Variant Prioritization Score for Impact Estimate 0.374
- REVEL 0.20
- MetaLR 0.16
- MetaSVM -0.80
- CADD 26.10
- PolyPhen-2 0.80
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available