R70C (p.Arg70Cys) variant of STAT1 (P42224)
R70C (p.Arg70Cys) in STAT1 (P42224) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien. The record also includes structural context.
R70C (p.Arg70Cys) variant details
- p.Arg70Cys
- rs2470565317
- ClinGen CA349927976
- ClinVar RCV003061538
- NCI-TCGA Cosmic COSV1007
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to partia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available