T82A (p.Thr82Ala) variant of CARD11 (Q9BXL7)
T82A (p.Thr82Ala) in CARD11 (Q9BXL7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
T82A (p.Thr82Ala) variant details
- p.Thr82Ala
- gnomAD rs1366307164
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.15
- CADD 23.90
- PolyPhen-2 0.74
- SIFT 0.09
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available