Q96R (p.Gln96Arg) variant of GBA1 (P04062)
Q96R (p.Gln96Arg) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
Q96R (p.Gln96Arg) variant details
- p.Gln96Arg
- gnomAD rs1457586824
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.36
- CADD 14.20
- PolyPhen-2 0.01
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available