I127V (p.Ile127Val) variant of MMUT (P22033)
I127V (p.Ile127Val) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data and structural context.
I127V (p.Ile127Val) variant details
- p.Ile127Val
- gnomAD rs1767767422
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- REVEL 0.68
- CADD 23.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available