V101I (p.Val101Ile) variant of STAT4 (Q14765)
V101I (p.Val101Ile) 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 0.32 / 1. The record also includes population frequency data and structural context.
V101I (p.Val101Ile) variant details
- p.Val101Ile
- gnomAD rs1196585329
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.08
- MetaLR 0.04
- MetaSVM -1.04
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.39
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available