V37I (p.Val37Ile) variant of STAT2 (P52630)
V37I (p.Val37Ile) in STAT2 (P52630) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
V37I (p.Val37Ile) variant details
- p.Val37Ile
- 1000Genomes rs144812882
- ESP rs144812882
- ExAC rs144812882
- TOPMed rs144812882
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.151
- REVEL 0.11
- CADD 10.20
- PolyPhen-2 0.01
- SIFT 0.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available