A29T (p.Ala29Thr) variant of GRN (Progranulin)
A29T (p.Ala29Thr) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
A29T (p.Ala29Thr) variant details
- p.Ala29Thr
- gnomAD 17-44349249-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.36
- CADD 21.90
- PolyPhen-2 0.07
- SIFT 0.22
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available
- Literature evidence available