S19N (p.Ser19Asn) variant of GBA1 (P04062)
S19N (p.Ser19Asn) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
S19N (p.Ser19Asn) variant details
- p.Ser19Asn
- ESP rs376644484
- ExAC rs376644484
- TOPMed rs376644484
- gnomAD rs376644484
- Missense
- Variant Prioritization Score for Impact Estimate 0.155
- REVEL 0.22
- CADD 0.32
- PolyPhen-2 0.00
- SIFT 0.65
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available