D142E (p.Asp142Glu) variant of CARD9 (Q9H257)
D142E (p.Asp142Glu) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data.
D142E (p.Asp142Glu) variant details
- p.Asp142Glu
- ExAC rs757521454
- gnomAD rs757521454
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.06
- CADD 13.70
- PolyPhen-2 0.09
- SIFT 0.12
- Most common in the South Asian population (allele frequency 2.3e-05)