E9V (p.Glu9Val) variant of CARD9 (Q9H257)
E9V (p.Glu9Val) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data.
E9V (p.Glu9Val) variant details
- p.Glu9Val
- ExAC rs754129074
- TOPMed rs754129074
- gnomAD rs754129074
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.03
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)