Q49H (p.Gln49His) variant of SLC2A4 (P14672)
Q49H (p.Gln49His) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
Q49H (p.Gln49His) variant details
- p.Gln49His
- gnomAD 17-7283358-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.513
- REVEL 0.60
- CADD 24.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available