D97N (p.Asp97Asn) variant of SPI1 (Transcription factor PU.1)
D97N (p.Asp97Asn) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from ClinVar and UniProt describe it as benign in the context of Agammaglobulinemia. 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.
D97N (p.Asp97Asn) variant details
- p.Asp97Asn
- TOPMed rs1595857429
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.371
- REVEL 0.12
- MetaLR 0.19
- MetaSVM -0.80
- CADD 25.30
- PolyPhen-2 0.71
- SIFT 0.03
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available