V111A (p.Val111Ala) variant of SPI1 (Transcription factor PU.1)
V111A (p.Val111Ala) in SPI1 (Transcription factor PU.1) is a missense change. 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.
V111A (p.Val111Ala) variant details
- p.Val111Ala
- Ensembl rs2095916630
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.12
- AlphaMissense 0.76
- MetaLR 0.36
- MetaSVM -0.22
- CADD 24.40
- PolyPhen-2 0.17
- Most common in the East Asian population (allele frequency 0.0001)
- Structural context available