D51N (p.Asp51Asn) variant of CARD9 (Q9H257)
D51N (p.Asp51Asn) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data.
D51N (p.Asp51Asn) variant details
- p.Asp51Asn
- cosmic curated COSV10004
- TOPMed rs922901788
- gnomAD rs922901788
- Missense
- Variant Prioritization Score for Impact Estimate 0.419
- REVEL 0.23
- CADD 26.50
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 0.00021)