N118Y (p.Asn118Tyr) variant of STAT1 (P42224)
N118Y (p.Asn118Tyr) in STAT1 (P42224) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
N118Y (p.Asn118Tyr) variant details
- p.Asn118Tyr
- gnomAD rs1434958612
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.06
- CADD 22.30
- PolyPhen-2 0.04
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available