Q126H (p.Gln126His) variant of STAT1 (P42224)
Q126H (p.Gln126His) in STAT1 (P42224) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
Q126H (p.Gln126His) variant details
- p.Gln126His
- ExAC rs778997004
- gnomAD rs778997004
- Uncertain significance
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficien
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.18
- CADD 15.10
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Mendelian susceptibility to mycobacterial diseases due to partia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available