S40R (p.Ser40Arg) variant of SPI1 (Transcription factor PU.1)
S40R (p.Ser40Arg) 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 0.15 / 1. The record also includes population frequency data and structural context.
S40R (p.Ser40Arg) variant details
- p.Ser40Arg
- cosmic curated COSV10874
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.07
- CADD 19.80
- PolyPhen-2 0.10
- SIFT 0.50
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- Structural context available