S53N (p.Ser53Asn) variant of IRF7 (Interferon regulatory factor 7)
S53N (p.Ser53Asn) in IRF7 (Interferon regulatory factor 7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
S53N (p.Ser53Asn) variant details
- p.Ser53Asn
- TOPMed rs1308688027
- gnomAD rs1308688027
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- AlphaMissense 0.20
- MetaLR 0.70
- MetaSVM 0.02
- CADD 8.75
- PolyPhen-2 0.06
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available