V143G (p.Val143Gly) variant of STAT4 (Q14765)
V143G (p.Val143Gly) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar, EBI, 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 0.44 / 1. The record also includes population frequency data and structural context.
V143G (p.Val143Gly) variant details
- p.Val143Gly
- rs866566754
- ClinGen CA62697546
- ClinVar RCV001926923
- Ensembl rs866566754
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.39
- MetaLR 0.14
- MetaSVM -0.95
- CADD 24.70
- PolyPhen-2 0.01
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00015)
- Structural context available