V7I (p.Val7Ile) variant of STAT4 (Q14765)
V7I (p.Val7Ile) in STAT4 (Q14765) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
V7I (p.Val7Ile) variant details
- p.Val7Ile
- Ensembl rs1699504520
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.12
- MetaLR 0.08
- MetaSVM -1.02
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.79
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available