T70I (p.Thr70Ile) variant of MMAA (Q8IVH4)
T70I (p.Thr70Ile) in MMAA (Q8IVH4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
T70I (p.Thr70Ile) variant details
- p.Thr70Ile
- ExAC rs767748129
- gnomAD rs767748129
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 22.40
- PolyPhen-2 0.02
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available