I60L (p.Ile60Leu) variant of MMUT (P22033)
I60L (p.Ile60Leu) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
I60L (p.Ile60Leu) variant details
- p.Ile60Leu
- Ensembl rs756504816
- Missense
- Variant Prioritization Score for Impact Estimate 0.464
- REVEL 0.46
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.73
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available