T32I (p.Thr32Ile) variant of MMAA (Q8IVH4)
T32I (p.Thr32Ile) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T32I (p.Thr32Ile) variant details
- p.Thr32Ile
- gnomAD 4-145639234-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 2.54
- PolyPhen-2 0.01
- SIFT 0.40
- Population evidence available
- Structural context available
- Literature evidence available