T52A (p.Thr52Ala) variant of GRN (Progranulin)
T52A (p.Thr52Ala) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
T52A (p.Thr52Ala) variant details
- p.Thr52Ala
- gnomAD rs1467250180
- Missense
- Variant Prioritization Score for Impact Estimate 0.0529
- REVEL 0.03
- CADD 1.30
- PolyPhen-2 0.00
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available