R70H (p.Arg70His) variant of STAT4 (Q14765)
R70H (p.Arg70His) 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 0.47 / 1. The record also includes population frequency data and structural context.
R70H (p.Arg70His) variant details
- p.Arg70His
- rs751076320
- NCI-TCGA Cosmic COSV6182
- cosmic curated COSV61828
- ExAC rs751076320
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.47
- REVEL 0.30
- MetaLR 0.22
- MetaSVM -0.70
- CADD 26.60
- PolyPhen-2 0.98
- SIFT 0.02
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5.1e-05)
- Structural context available