P48L (p.Pro48Leu) variant of SLC2A4 (P14672)
P48L (p.Pro48Leu) 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.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- gnomAD 17-7283354-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.71
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the South Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available