T79I (p.Thr79Ile) variant of AICDA (Q9GZX7)
T79I (p.Thr79Ile) in AICDA (Q9GZX7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
T79I (p.Thr79Ile) variant details
- p.Thr79Ile
- cosmic curated COSV99984
- ExAC rs759039199
- TOPMed rs759039199
- gnomAD rs759039199
- Missense
- Variant Prioritization Score for Impact Estimate 0.728
- REVEL 0.79
- MetaLR 0.49
- MetaSVM -0.04
- CADD 27.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available