G40S (p.Gly40Ser) variant of TGM1 (P22735)
G40S (p.Gly40Ser) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
G40S (p.Gly40Ser) variant details
- p.Gly40Ser
- Ensembl rs2040819651
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.21
- CADD 8.45
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available