L72F (p.Leu72Phe) variant of MMUT (P22033)
L72F (p.Leu72Phe) in MMUT (P22033) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L72F (p.Leu72Phe) variant details
- p.Leu72Phe
- gnomAD rs1341884213
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.34
- REVEL 0.53
- CADD 4.17
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available