L39V (p.Leu39Val) variant of MMUT (P22033)
L39V (p.Leu39Val) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
L39V (p.Leu39Val) variant details
- p.Leu39Val
- TOPMed rs1767779186
- gnomAD rs1767779186
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.48
- CADD 23.20
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available