N46D (p.Asn46Asp) variant of SLC2A4 (P14672)
N46D (p.Asn46Asp) in SLC2A4 (P14672) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
N46D (p.Asn46Asp) variant details
- p.Asn46Asp
- TOPMed rs1041707570
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.84
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available