S75A (p.Ser75Ala) variant of TGM1 (P22735)
S75A (p.Ser75Ala) in TGM1 (P22735) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
S75A (p.Ser75Ala) variant details
- p.Ser75Ala
- ExAC rs761252462
- gnomAD rs761252462
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.27
- CADD 1.82
- PolyPhen-2 0.01
- SIFT 0.64
- Population evidence available
- Structural context available