A135T (p.Ala135Thr) variant of CARD9 (Q9H257)
A135T (p.Ala135Thr) in CARD9 (Q9H257) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data.
A135T (p.Ala135Thr) variant details
- p.Ala135Thr
- ExAC rs778718632
- gnomAD rs778718632
- Missense
- Variant Prioritization Score for Impact Estimate 0.177
- REVEL 0.04
- CADD 9.89
- PolyPhen-2 0.05
- SIFT 0.31
- Most common in the South Asian population (allele frequency 4.6e-05)