H32Q (p.His32Gln) variant of STAT4 (Q14765)
H32Q (p.His32Gln) 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 0.14 / 1. The record also includes population frequency data and structural context.
H32Q (p.His32Gln) variant details
- p.His32Gln
- rs766134008
- ClinGen CA2031000
- ClinVar RCV003032011
- ExAC rs766134008
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.11
- MetaLR 0.03
- MetaSVM -0.98
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available