V14L (p.Val14Leu) variant of SLC2A2 (P11168)
V14L (p.Val14Leu) 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 0.46 / 1. The record also includes population frequency data and structural context.
V14L (p.Val14Leu) variant details
- p.Val14Leu
- ESP rs372441014
- TOPMed rs372441014
- gnomAD rs372441014
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.455
- REVEL 0.37
- CADD 21.10
- PolyPhen-2 0.53
- SIFT 0.05
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the HGDP:MANDENKA population (allele frequency 0.025)
- Structural context available