S5N (p.Ser5Asn) variant of GBA1 (P04062)
S5N (p.Ser5Asn) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
S5N (p.Ser5Asn) variant details
- p.Ser5Asn
- 1000Genomes rs201985614
- ExAC rs201985614
- TOPMed rs201985614
- gnomAD rs201985614
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.22
- CADD 7.97
- PolyPhen-2 0.01
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available