A53V (p.Ala53Val) variant of STAT4 (Q14765)
A53V (p.Ala53Val) in STAT4 (Q14765) 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 0.57 / 1. The record also includes population frequency data and structural context.
A53V (p.Ala53Val) variant details
- p.Ala53Val
- rs1308664127
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10063
- gnomAD rs1308664127
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.571
- REVEL 0.47
- MetaLR 0.41
- MetaSVM -0.24
- CADD 29.30
- PolyPhen-2 0.91
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available