L26V (p.Leu26Val) variant of SLC2A4 (P14672)
L26V (p.Leu26Val) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
L26V (p.Leu26Val) variant details
- p.Leu26Val
- gnomAD 17-7283287-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.442
- REVEL 0.25
- CADD 19.90
- PolyPhen-2 0.09
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available