Y4D (p.Tyr4Asp) variant of CARD9 (Q9H257)
Y4D (p.Tyr4Asp) 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 0.30 / 1. The record also includes population frequency data.
Y4D (p.Tyr4Asp) variant details
- p.Tyr4Asp
- ExAC rs775128842
- gnomAD rs775128842
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.10
- CADD 22.30
- PolyPhen-2 0.07
- SIFT 0.07
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)