R34H (p.Arg34His) variant of TGM1 (P22735)
R34H (p.Arg34His) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R34H (p.Arg34His) variant details
- p.Arg34His
- TOPMed rs1449897250
- gnomAD rs1449897250
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.28
- CADD 12.90
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available