D42G (p.Asp42Gly) variant of STAT4 (Q14765)
D42G (p.Asp42Gly) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D42G (p.Asp42Gly) variant details
- p.Asp42Gly
- ExAC rs761161672
- TOPMed rs761161672
- gnomAD rs761161672
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.72
- MetaLR 0.32
- MetaSVM -0.36
- CADD 28.80
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available