N30S (p.Asn30Ser) variant of IRF8 (Interferon regulatory factor 8)
N30S (p.Asn30Ser) in IRF8 (Interferon regulatory factor 8) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
N30S (p.Asn30Ser) variant details
- p.Asn30Ser
- ExAC rs779381872
- gnomAD rs779381872
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.39
- CADD 18.00
- PolyPhen-2 0.07
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available