S60R (p.Ser60Arg) variant of SPI1 (Transcription factor PU.1)
S60R (p.Ser60Arg) 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 0.10 / 1. The record also includes population frequency data and structural context.
S60R (p.Ser60Arg) variant details
- p.Ser60Arg
- ExAC rs781009883
- TOPMed rs781009883
- gnomAD rs781009883
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.0961
- REVEL 0.03
- MetaLR 0.04
- MetaSVM -1.07
- CADD 10.30
- PolyPhen-2 0.01
- SIFT 0.46
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available