T78A (p.Thr78Ala) variant of MMUT (P22033)
T78A (p.Thr78Ala) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
T78A (p.Thr78Ala) variant details
- p.Thr78Ala
- gnomAD rs1414898553
- Missense
- Variant Prioritization Score for Impact Estimate 0.458
- REVEL 0.38
- CADD 20.20
- PolyPhen-2 0.01
- SIFT 0.21
- Most common in the South Asian population (allele frequency 4.6e-05)
- Structural context available