N30K (p.Asn30Lys) variant of IRF8 (Interferon regulatory factor 8)
N30K (p.Asn30Lys) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
N30K (p.Asn30Lys) variant details
- p.Asn30Lys
- ExAC rs772616220
- TOPMed rs772616220
- gnomAD rs772616220
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.63
- CADD 11.00
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available