S12L (p.Ser12Leu) variant of MMUT (P22033)
S12L (p.Ser12Leu) 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 0.37 / 1. The record also includes population frequency data and structural context.
S12L (p.Ser12Leu) variant details
- p.Ser12Leu
- ExAC rs775177090
- gnomAD rs775177090
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.31
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available