T98A (p.Thr98Ala) variant of MMUT (P22033)
T98A (p.Thr98Ala) in MMUT (P22033) 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 0.70 / 1. The record also includes population frequency data and structural context.
T98A (p.Thr98Ala) variant details
- p.Thr98Ala
- ExAC rs754740382
- TOPMed rs754740382
- gnomAD rs754740382
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.701
- REVEL 0.77
- CADD 23.80
- PolyPhen-2 0.21
- SIFT 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available