Q132L (p.Gln132Leu) variant of MMUT (P22033)
Q132L (p.Gln132Leu) in MMUT (P22033) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
Q132L (p.Gln132Leu) variant details
- p.Gln132Leu
- rs766605891
- ClinGen CA364404815
- ClinVar RCV001297506
- ExAC rs766605891
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- REVEL 0.88
- CADD 24.20
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available