A46T (p.Ala46Thr) variant of STAT1 (P42224)
A46T (p.Ala46Thr) 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 0.50 / 1. The record also includes population frequency data and structural context.
A46T (p.Ala46Thr) variant details
- p.Ala46Thr
- rs781389511
- NCI-TCGA Cosmic COSV1007
- cosmic curated COSV10073
- ExAC rs781389511
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.28
- CADD 26.50
- PolyPhen-2 0.97
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available