E146K (p.Glu146Lys) variant of CARD9 (Q9H257)
E146K (p.Glu146Lys) in CARD9 (Q9H257) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data.
E146K (p.Glu146Lys) variant details
- p.Glu146Lys
- cosmic curated COSV10459
- TOPMed rs1407588129
- gnomAD rs1407588129
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.08
- CADD 22.80
- PolyPhen-2 0.54
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)