M142K (p.Met142Lys) variant of SLC2A2 (P11168)
M142K (p.Met142Lys) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
M142K (p.Met142Lys) variant details
- p.Met142Lys
- TOPMed rs1016384738
- gnomAD rs1016384738
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.831
- REVEL 0.97
- CADD 27.20
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available