Q128K (p.Gln128Lys) variant of SPI1 (Transcription factor PU.1)
Q128K (p.Gln128Lys) 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 0.32 / 1. The record also includes population frequency data and structural context.
Q128K (p.Gln128Lys) variant details
- p.Gln128Lys
- gnomAD rs1437805137
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.12
- MetaLR 0.10
- MetaSVM -0.99
- CADD 23.00
- PolyPhen-2 0.10
- SIFT 0.09
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the South Asian population (allele frequency 7.8e-05)
- Structural context available