H40L (p.His40Leu) variant of MMUT (P22033)
H40L (p.His40Leu) in MMUT (P22033) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
H40L (p.His40Leu) variant details
- p.His40Leu
- gnomAD rs1223547181
- Missense
- Variant Prioritization Score for Impact Estimate 0.62
- REVEL 0.61
- CADD 24.00
- PolyPhen-2 0.98
- SIFT 0.24
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available