Q32H (p.Gln32His) variant of GBA1 (P04062)
Q32H (p.Gln32His) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q32H (p.Gln32His) variant details
- p.Gln32His
- gnomAD rs1244961782
- Missense
- Variant Prioritization Score for Impact Estimate 0.328
- REVEL 0.36
- CADD 18.60
- PolyPhen-2 0.00
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available