A47T (p.Ala47Thr) variant of SLC2A4 (P14672)
A47T (p.Ala47Thr) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
A47T (p.Ala47Thr) variant details
- p.Ala47Thr
- gnomAD 17-7283350-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.69
- CADD 28.80
- PolyPhen-2 0.73
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available