Q3P (p.Gln3Pro) variant of SPI1 (Transcription factor PU.1)
Q3P (p.Gln3Pro) in SPI1 (Transcription factor PU.1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
Q3P (p.Gln3Pro) variant details
- p.Gln3Pro
- Ensembl rs867961380
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.14
- MetaLR 0.03
- MetaSVM -1.09
- CADD 25.70
- PolyPhen-2 0.29
- SIFT 0.14
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available