R70L (p.Arg70Leu) variant of STAT4 (Q14765)
R70L (p.Arg70Leu) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
R70L (p.Arg70Leu) variant details
- p.Arg70Leu
- rs751076320
- ClinGen CA2030971
- ClinVar RCV002580579
- ClinVar RCV006327470
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.48
- REVEL 0.32
- MetaLR 0.27
- MetaSVM -0.61
- CADD 26.60
- PolyPhen-2 0.97
- SIFT 0.01
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available