E81K (p.Glu81Lys) variant of CARD9 (Q9H257)
E81K (p.Glu81Lys) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data and structural context.
E81K (p.Glu81Lys) variant details
- p.Glu81Lys
- ExAC rs748704811
- TOPMed rs748704811
- gnomAD rs748704811
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.59
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available