T32D (p.Thr32Asp) variant of MMAA (Q8IVH4)
T32D (p.Thr32Asp) in MMAA (Q8IVH4) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T32D (p.Thr32Asp) variant details
- p.Thr32Asp
- gnomAD 4-145639229-AAGTA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.233
- CADD 21.50
- Population evidence available
- Structural context available
- Literature evidence available