S35C (p.Ser35Cys) variant of TGM1 (P22735)
S35C (p.Ser35Cys) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
S35C (p.Ser35Cys) variant details
- p.Ser35Cys
- TOPMed rs1211811598
- gnomAD rs1211811598
- Missense
- Variant Prioritization Score for Impact Estimate 0.337
- REVEL 0.28
- CADD 12.30
- PolyPhen-2 0.17
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available