L8V (p.Leu8Val) variant of MMUT (P22033)
L8V (p.Leu8Val) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
L8V (p.Leu8Val) variant details
- p.Leu8Val
- TOPMed rs1767782843
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.26
- CADD 17.90
- PolyPhen-2 0.00
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available