L114P (p.Leu114Pro) variant of SPI1 (Transcription factor PU.1)
L114P (p.Leu114Pro) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
L114P (p.Leu114Pro) variant details
- p.Leu114Pro
- gnomAD rs1213069874
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -1.08
- CADD 24.10
- PolyPhen-2 0.01
- SIFT 0.11
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available