T52A (p.Thr52Ala) variant of MMAA (Q8IVH4)
T52A (p.Thr52Ala) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
T52A (p.Thr52Ala) variant details
- p.Thr52Ala
- gnomAD 4-145639293-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.07
- CADD 0.75
- PolyPhen-2 0.00
- SIFT 0.56
- Population evidence available
- Structural context available
- Literature evidence available