H104P (p.His104Pro) variant of SPI1 (Transcription factor PU.1)
H104P (p.His104Pro) 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 0.26 / 1. The record also includes population frequency data and structural context.
H104P (p.His104Pro) variant details
- p.His104Pro
- rs1595857406
- ClinGen CA380352352
- ClinVar RCV004464955
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.10
- MetaLR 0.12
- MetaSVM -1.01
- CADD 23.60
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available