T98P (p.Thr98Pro) variant of MMUT (P22033)
T98P (p.Thr98Pro) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
T98P (p.Thr98Pro) variant details
- p.Thr98Pro
- rs754740382
- ClinGen CA3847140
- ClinVar RCV000817397
- ExAC rs754740382
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.92
- CADD 27.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available