S41T (p.Ser41Thr) variant of SPI1 (Transcription factor PU.1)
S41T (p.Ser41Thr) 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 0.31 / 1. The record also includes population frequency data and structural context.
S41T (p.Ser41Thr) variant details
- p.Ser41Thr
- gnomAD rs1336660368
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.03
- CADD 21.40
- PolyPhen-2 0.01
- SIFT 0.49
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available