I60T (p.Ile60Thr) variant of MMUT (P22033)
I60T (p.Ile60Thr) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
I60T (p.Ile60Thr) variant details
- p.Ile60Thr
- rs770382069
- ClinGen CA3847171
- ClinVar RCV001885638
- ExAC rs770382069
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.49
- CADD 15.50
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available