H44R (p.His44Arg) variant of SLC2A2 (P11168)
H44R (p.His44Arg) in SLC2A2 (P11168) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
H44R (p.His44Arg) variant details
- p.His44Arg
- TOPMed rs1716056716
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.13
- CADD 0.34
- PolyPhen-2 0.00
- SIFT 0.89
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available