H104R (p.His104Arg) variant of SPI1 (Transcription factor PU.1)
H104R (p.His104Arg) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
H104R (p.His104Arg) variant details
- p.His104Arg
- Ensembl rs1595857406
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.12
- MetaLR 0.06
- MetaSVM -1.07
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available