E61K (p.Glu61Lys) variant of SPI1 (Transcription factor PU.1)
E61K (p.Glu61Lys) 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.
E61K (p.Glu61Lys) variant details
- p.Glu61Lys
- Ensembl rs2095918344
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.13
- MetaLR 0.16
- MetaSVM -0.88
- CADD 25.40
- PolyPhen-2 0.24
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available