M99T (p.Met99Thr) variant of MMUT (P22033)
M99T (p.Met99Thr) 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 0.82 / 1. The record also includes population frequency data and structural context.
M99T (p.Met99Thr) variant details
- p.Met99Thr
- rs1767770379
- ClinGen CA364405059
- ClinVar RCV002561121
- TOPMed rs1767770379
- Pathogenic
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.819
- REVEL 0.95
- CADD 25.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available