N53K (p.Asn53Lys) variant of CARD9 (Q9H257)
N53K (p.Asn53Lys) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data.
N53K (p.Asn53Lys) variant details
- p.Asn53Lys
- ExAC rs762536086
- gnomAD rs762536086
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.05
- CADD 17.20
- PolyPhen-2 0.24
- SIFT 0.98
- Most common in the Non-Finnish European population (allele frequency 9e-07)