T75A (p.Thr75Ala) variant of GBA1 (P04062)
T75A (p.Thr75Ala) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T75A (p.Thr75Ala) variant details
- p.Thr75Ala
- ExAC rs779258874
- gnomAD rs779258874
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.27
- CADD 21.00
- PolyPhen-2 0.00
- SIFT 0.38
- Most common in the Ashkenazi Jewish population (allele frequency 5.1e-05)
- Structural context available