S30F (p.Ser30Phe) variant of SLC2A4 (P14672)
S30F (p.Ser30Phe) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- gnomAD 17-7283300-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.36
- CADD 25.50
- PolyPhen-2 0.65
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available