H57N (p.His57Asn) variant of SPI1 (Transcription factor PU.1)
H57N (p.His57Asn) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar 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 0.34 / 1. The record also includes population frequency data and structural context.
H57N (p.His57Asn) variant details
- p.His57Asn
- TOPMed rs2095918371
- gnomAD rs2095918371
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.16
- MetaLR 0.17
- MetaSVM -0.91
- CADD 23.70
- PolyPhen-2 0.20
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 8.4e-05)
- Structural context available