R70C (p.Arg70Cys) variant of STAT4 (Q14765)
R70C (p.Arg70Cys) in STAT4 (Q14765) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
R70C (p.Arg70Cys) variant details
- p.Arg70Cys
- rs1468059700
- NCI-TCGA Cosmic COSV6182
- cosmic curated COSV61828
- gnomAD rs1468059700
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.39
- MetaLR 0.32
- MetaSVM -0.46
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available