W12R (p.Trp12Arg) variant of TGM1 (P22735)
W12R (p.Trp12Arg) 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 0.52 / 1. The record also includes population frequency data and structural context.
W12R (p.Trp12Arg) variant details
- p.Trp12Arg
- gnomAD rs1413293925
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.525
- REVEL 0.45
- CADD 24.40
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available