H99R (p.His99Arg) variant of GBA1 (P04062)
H99R (p.His99Arg) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
H99R (p.His99Arg) variant details
- p.His99Arg
- gnomAD rs1141820
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.30
- CADD 0.21
- PolyPhen-2 0.00
- SIFT 0.49
- Most common in the Non-Finnish European population (allele frequency 5e-05)
- Structural context available