Q17H (p.Gln17His) variant of SLC2A4 (P14672)
Q17H (p.Gln17His) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
Q17H (p.Gln17His) variant details
- p.Gln17His
- gnomAD rs947358493
- Missense
- Variant Prioritization Score for Impact Estimate 0.229
- REVEL 0.13
- MetaLR 0.33
- MetaSVM -0.67
- CADD 16.50
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available