A105V (p.Ala105Val) variant of SLC2A2 (P11168)
A105V (p.Ala105Val) in SLC2A2 (P11168) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
A105V (p.Ala105Val) variant details
- p.Ala105Val
- TOPMed rs1399091893
- gnomAD rs1399091893
- Missense
- Variant Prioritization Score for Impact Estimate 0.57
- REVEL 0.42
- CADD 27.20
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available