I83M (p.Ile83Met) variant of STAT1 (P42224)
I83M (p.Ile83Met) in STAT1 (P42224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
I83M (p.Ile83Met) variant details
- p.Ile83Met
- TOPMed rs1293185041
- gnomAD rs1293185041
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.29
- CADD 22.60
- PolyPhen-2 0.57
- SIFT 0.13
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available