N43K (p.Asn43Lys) variant of STAT2 (P52630)
N43K (p.Asn43Lys) in STAT2 (P52630) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
N43K (p.Asn43Lys) variant details
- p.Asn43Lys
- TOPMed rs1182244325
- gnomAD rs1182244325
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.21
- CADD 29.10
- PolyPhen-2 0.92
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available