T69I (p.Thr69Ile) variant of MMAA (Q8IVH4)
T69I (p.Thr69Ile) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
T69I (p.Thr69Ile) variant details
- p.Thr69Ile
- gnomAD 4-145639345-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 18.10
- PolyPhen-2 0.11
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available