N123H (p.Asn123His) variant of STAT1 (P42224)
N123H (p.Asn123His) in STAT1 (P42224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
N123H (p.Asn123His) variant details
- p.Asn123His
- ExAC rs748138919
- gnomAD rs748138919
- Missense
- Variant Prioritization Score for Impact Estimate 0.306
- REVEL 0.18
- CADD 19.50
- PolyPhen-2 0.21
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available