V21L (p.Val21Leu) variant of SPI1 (Transcription factor PU.1)
V21L (p.Val21Leu) 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 0.33 / 1. The record also includes population frequency data and structural context.
V21L (p.Val21Leu) variant details
- p.Val21Leu
- gnomAD rs1044667434
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.07
- MetaLR 0.11
- MetaSVM -0.94
- CADD 23.70
- PolyPhen-2 0.01
- SIFT 0.60
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available