N75T (p.Asn75Thr) variant of SLC2A2 (P11168)
N75T (p.Asn75Thr) in SLC2A2 (P11168) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
N75T (p.Asn75Thr) variant details
- p.Asn75Thr
- gnomAD rs1342979475
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.26
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.63
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available