G108S (p.Gly108Ser) variant of SPI1 (Transcription factor PU.1)
G108S (p.Gly108Ser) 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 0.11 / 1. The record also includes population frequency data and structural context.
G108S (p.Gly108Ser) variant details
- p.Gly108Ser
- gnomAD rs1280079647
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- REVEL 0.03
- MetaLR 0.03
- MetaSVM -0.98
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available