V49I (p.Val49Ile) variant of SLC2A1 (P11166)
V49I (p.Val49Ile) 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 0.15 / 1. The record also includes population frequency data and structural context.
V49I (p.Val49Ile) variant details
- p.Val49Ile
- rs878854904
- NCI-TCGA Cosmic COSV1009
- gnomAD rs878854904
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.147
- REVEL 0.14
- AlphaMissense 0.07
- MetaLR 0.18
- MetaSVM -0.95
- CADD 0.92
- PolyPhen-2 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available