N98T (p.Asn98Thr) variant of GBA1 (P04062)
N98T (p.Asn98Thr) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
N98T (p.Asn98Thr) variant details
- p.Asn98Thr
- TOPMed rs1369054986
- gnomAD rs1369054986
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.33
- CADD 14.70
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available