V55I (p.Val55Ile) variant of CARD9 (Q9H257)
V55I (p.Val55Ile) 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 0.39 / 1. The record also includes population frequency data and structural context.
V55I (p.Val55Ile) variant details
- p.Val55Ile
- ExAC rs752221728
- gnomAD rs752221728
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.20
- CADD 23.40
- PolyPhen-2 1.00
- SIFT 0.07
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available