A47T (p.Ala47Thr) variant of STAT1 (P42224)
A47T (p.Ala47Thr) in STAT1 (P42224) 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 0.49 / 1. The record also includes population frequency data and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- NCI-TCGA TCGA novel
- Ensembl rs2125101045
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.486
- REVEL 0.27
- CADD 24.30
- PolyPhen-2 0.90
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available