H99N (p.His99Asn) variant of GBA1 (P04062)
H99N (p.His99Asn) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data and structural context.
H99N (p.His99Asn) variant details
- p.His99Asn
- ExAC rs1141818
- gnomAD rs1141818
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.27
- CADD 9.21
- PolyPhen-2 0.00
- SIFT 0.42
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available