D8H (p.Asp8His) variant of TGM1 (P22735)
D8H (p.Asp8His) in TGM1 (P22735) 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 0.55 / 1. The record also includes population frequency data and structural context.
D8H (p.Asp8His) variant details
- p.Asp8His
- 1000Genomes rs376706308
- ESP rs376706308
- ExAC rs376706308
- TOPMed rs376706308
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.551
- REVEL 0.39
- CADD 23.90
- PolyPhen-2 0.99
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available