A16T (p.Ala16Thr) variant of GRN (Progranulin)
A16T (p.Ala16Thr) in GRN (Progranulin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
A16T (p.Ala16Thr) variant details
- p.Ala16Thr
- gnomAD rs1482233397
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.24
- CADD 17.30
- PolyPhen-2 0.34
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available