L114V (p.Leu114Val) variant of SPI1 (Transcription factor PU.1)
L114V (p.Leu114Val) 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 0.09 / 1. The record also includes population frequency data and structural context.
L114V (p.Leu114Val) variant details
- p.Leu114Val
- TOPMed rs1292107582
- gnomAD rs1292107582
- Benign
- Agammaglobulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.09
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.03
- CADD 10.60
- PolyPhen-2 0.00
- SIFT 0.58
- ClinVar: Benign (Agammaglobulinemia)
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 3.1e-05)
- Structural context available