T70A (p.Thr70Ala) variant of MMAA (Q8IVH4)
T70A (p.Thr70Ala) in MMAA (Q8IVH4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
T70A (p.Thr70Ala) variant details
- p.Thr70Ala
- gnomAD rs1328208245
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.06
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.58
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available