P68A (p.Pro68Ala) variant of GBA1 (P04062)
P68A (p.Pro68Ala) in GBA1 (P04062) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
P68A (p.Pro68Ala) variant details
- p.Pro68Ala
- gnomAD rs1172463382
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.24
- CADD 6.68
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available