L122V (p.Leu122Val) variant of SLC2A1 (P11166)
L122V (p.Leu122Val) in SLC2A1 (P11166) 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 0.53 / 1. The record also includes population frequency data and structural context.
L122V (p.Leu122Val) variant details
- p.Leu122Val
- gnomAD rs1172279073
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.63
- CADD 19.30
- PolyPhen-2 0.36
- SIFT 0.25
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available