T75N (p.Thr75Asn) variant of GBA1 (P04062)
T75N (p.Thr75Asn) in GBA1 (P04062) 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.
T75N (p.Thr75Asn) variant details
- p.Thr75Asn
- ESP rs373363286
- ExAC rs373363286
- gnomAD rs373363286
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.20
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.34
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available