S82N (p.Ser82Asn) variant of CARD9 (Q9H257)
S82N (p.Ser82Asn) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
S82N (p.Ser82Asn) variant details
- p.Ser82Asn
- ExAC rs778562065
- TOPMed rs778562065
- gnomAD rs778562065
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- REVEL 0.50
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available