H4R (p.His4Arg) variant of SLC5A2 (Sodium/glucose cotransporter 2)
H4R (p.His4Arg) in SLC5A2 (Sodium/glucose cotransporter 2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
H4R (p.His4Arg) variant details
- p.His4Arg
- gnomAD 16-31483147-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.15
- CADD 7.43
- PolyPhen-2 0.00
- SIFT 0.60
- Population evidence available
- Structural context available
- Literature evidence available