M52T (p.Met52Thr) variant of STAT4 (Q14765)
M52T (p.Met52Thr) in STAT4 (Q14765) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
M52T (p.Met52Thr) variant details
- p.Met52Thr
- TOPMed rs1338661647
- gnomAD rs1338661647
- Missense
- Variant Prioritization Score for Impact Estimate 0.33
- REVEL 0.17
- MetaLR 0.13
- MetaSVM -0.95
- CADD 22.10
- PolyPhen-2 0.09
- SIFT 0.05
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available