G13D (p.Gly13Asp) variant of TGM1 (P22735)
G13D (p.Gly13Asp) in TGM1 (P22735) is a missense change. 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.
G13D (p.Gly13Asp) variant details
- p.Gly13Asp
- gnomAD rs1164800116
- Missense
- Variant Prioritization Score for Impact Estimate 0.524
- REVEL 0.40
- CADD 17.40
- PolyPhen-2 0.32
- SIFT 0.09
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available