A29D (p.Ala29Asp) variant of GRN (Progranulin)
A29D (p.Ala29Asp) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
A29D (p.Ala29Asp) variant details
- p.Ala29Asp
- gnomAD 17-44349250-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.51
- CADD 22.90
- PolyPhen-2 0.88
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available