R34P (p.Arg34Pro) variant of TGM1 (P22735)
R34P (p.Arg34Pro) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R34P (p.Arg34Pro) variant details
- p.Arg34Pro
- TOPMed rs1449897250
- gnomAD rs1449897250
- Missense
- Variant Prioritization Score for Impact Estimate 0.39
- REVEL 0.40
- CADD 17.90
- PolyPhen-2 0.65
- SIFT 0.09
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available