P2T (p.Pro2Thr) variant of SLC2A4 (P14672)
P2T (p.Pro2Thr) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
P2T (p.Pro2Thr) variant details
- p.Pro2Thr
- gnomAD 17-7281938-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.515
- REVEL 0.33
- CADD 25.20
- PolyPhen-2 0.61
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available