T71N (p.Thr71Asn) variant of CARD9 (Q9H257)
T71N (p.Thr71Asn) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data.
T71N (p.Thr71Asn) variant details
- p.Thr71Asn
- ExAC rs746089018
- TOPMed rs746089018
- gnomAD rs746089018
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- REVEL 0.28
- CADD 23.00
- PolyPhen-2 1.00
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)