E128V (p.Glu128Val) variant of STAT4 (Q14765)
E128V (p.Glu128Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
E128V (p.Glu128Val) variant details
- p.Glu128Val
- rs140675301
- ClinGen CA2030889
- ClinVar RCV001326416
- ClinVar RCV003938632
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.602
- REVEL 0.59
- MetaLR 0.64
- MetaSVM 0.24
- CADD 24.70
- PolyPhen-2 0.62
- SIFT 0.05
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:SARDINIAN population (allele frequency 0.019)
- Structural context available