T54M (p.Thr54Met) variant of STAT4 (Q14765)
T54M (p.Thr54Met) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
T54M (p.Thr54Met) variant details
- p.Thr54Met
- rs750095435
- ClinGen CA2030975
- NCI-TCGA Cosmic COSV6183
- cosmic curated COSV61832
- Conflicting interpretations
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.359
- REVEL 0.20
- MetaLR 0.14
- MetaSVM -0.91
- CADD 22.50
- PolyPhen-2 0.08
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (not provided; not specified)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available