P6P (p.Pro6Pro) variant of GAA (Lysosomal alpha-glucosidase)
P6P (p.Pro6Pro) in GAA (Lysosomal alpha-glucosidase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
P6P (p.Pro6Pro) variant details
- p.Pro6Pro
- rs774703637
- gnomAD 17-80104604-G-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0814
- CADD 0.16
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available