D4H (p.Asp4His) variant of SLC2A2 (P11168)
D4H (p.Asp4His) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Monogenic diabetes. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
D4H (p.Asp4His) variant details
- p.Asp4His
- rs200073044
- ClinGen CA2702795
- ClinVar RCV001174384
- 1000Genomes rs200073044
- Uncertain significance
- Monogenic diabetes
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.16
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.10
- ClinVar: Uncertain significance (Monogenic diabetes)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available