A4V (p.Ala4Val) variant of SPI1 (Transcription factor PU.1)
A4V (p.Ala4Val) in SPI1 (Transcription factor PU.1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- rs1273802112
- NCI-TCGA Cosmic COSV5704
- cosmic curated COSV57044
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.01
- CADD 33.00
- PolyPhen-2 0.47
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available