S106N (p.Ser106Asn) variant of SPI1 (Transcription factor PU.1)
S106N (p.Ser106Asn) 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 0.22 / 1. The record also includes population frequency data and structural context.
S106N (p.Ser106Asn) variant details
- p.Ser106Asn
- ExAC rs761463108
- gnomAD rs761463108
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.01
- CADD 18.30
- PolyPhen-2 0.03
- SIFT 0.53
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available