M99L (p.Met99Leu) variant of SLC2A1 (P11166)
M99L (p.Met99Leu) in SLC2A1 (P11166) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
M99L (p.Met99Leu) variant details
- p.Met99Leu
- gnomAD rs1211054711
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.19
- AlphaMissense 0.11
- MetaLR 0.11
- MetaSVM -0.88
- CADD 18.30
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available