F122L (p.Phe122Leu) variant of MMUT (P22033)
F122L (p.Phe122Leu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
F122L (p.Phe122Leu) variant details
- p.Phe122Leu
- rs368780480
- ClinGen CA3847133
- ClinVar RCV004475278
- ESP rs368780480
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.83
- CADD 25.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available