T11A (p.Thr11Ala) variant of GRN (Progranulin)
T11A (p.Thr11Ala) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T11A (p.Thr11Ala) variant details
- p.Thr11Ala
- gnomAD 17-44349195-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.23
- REVEL 0.03
- CADD 7.91
- PolyPhen-2 0.00
- SIFT 0.12
- Population evidence available
- Structural context available
- Literature evidence available