S12* (p.Ser12Ter) variant of MMUT (P22033)
S12* (p.Ser12Ter) in MMUT (P22033) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
S12* (p.Ser12Ter) variant details
- p.Ser12Ter
- ExAC rs775177090
- gnomAD rs775177090
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.599
- CADD 33.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available