L2I (p.Leu2Ile) variant of SPI1 (Transcription factor PU.1)
L2I (p.Leu2Ile) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
L2I (p.Leu2Ile) variant details
- p.Leu2Ile
- cosmic curated COSV10731
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.06
- CADD 23.80
- PolyPhen-2 0.63
- SIFT 0.02
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available