I69M (p.Ile69Met) variant of MMUT (P22033)
I69M (p.Ile69Met) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
I69M (p.Ile69Met) variant details
- p.Ile69Met
- rs757381606
- ClinGen CA3847162
- ClinVar RCV004475084
- ExAC rs757381606
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.452
- REVEL 0.61
- CADD 18.50
- PolyPhen-2 0.20
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance (in MAMM)
- UniProt: Uncertain significance (in MAMM)
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- Structural context available