R6H (p.Arg6His) variant of TGM1 (P22735)
R6H (p.Arg6His) in TGM1 (P22735) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
R6H (p.Arg6His) variant details
- p.Arg6His
- rs368781510
- ESP rs368781510
- TOPMed rs368781510
- gnomAD rs368781510
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.504
- REVEL 0.43
- CADD 24.00
- PolyPhen-2 0.96
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available