D141H (p.Asp141His) variant of CARD9 (Q9H257)
D141H (p.Asp141His) in CARD9 (Q9H257) is a missense change. Clinical records from ClinVar, EBI, 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 0.30 / 1. The record also includes population frequency data.
D141H (p.Asp141His) variant details
- p.Asp141His
- ESP rs375341696
- ExAC rs375341696
- TOPMed rs375341696
- gnomAD rs375341696
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.05
- CADD 22.60
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)