V9G (p.Val9Gly) variant of TGM1 (P22735)
V9G (p.Val9Gly) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V9G (p.Val9Gly) variant details
- p.Val9Gly
- ExAC rs267603965
- gnomAD rs267603965
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.44
- CADD 18.50
- PolyPhen-2 0.06
- SIFT 0.00
- Most common in the South Asian population (allele frequency 5.8e-05)
- Structural context available