I28L (p.Ile28Leu) variant of MMUT (P22033)
I28L (p.Ile28Leu) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
I28L (p.Ile28Leu) variant details
- p.Ile28Leu
- Ensembl rs778241680
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.22
- CADD 0.02
- PolyPhen-2 0.00
- SIFT 0.74
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available