S85L (p.Ser85Leu) variant of TGM1 (P22735)
S85L (p.Ser85Leu) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
S85L (p.Ser85Leu) variant details
- p.Ser85Leu
- TOPMed rs1441391864
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.14
- AlphaMissense 0.10
- MetaLR 0.29
- MetaSVM -0.85
- CADD 14.60
- PolyPhen-2 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available